CHROMOSOME 17

References

 

Cases without clinical findings	5	similar imbalances no clinical findings
Cases with clinical findings	27	similar imbalances with clinical findings	symptoms
Cases without clear clinical correlation	13	Cases with complex sSMC	1
Cases with discontinous sSMC	2	Cases with UPD and sSMC	0
Cases with neocentromeres	1	similar imbalances	DIS- CLAIMER
tumor	0

In general 70% of sSMC carriers are clinically normal. The figures here
are based on the bias, that mainly clinically aberrant cases are reported in literature!

	UPD (uniparental disomy) cases:		UPD 17 mat	UPD 17 pat	UPD 17 unclear

 

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the probably non-dosage sensitive pericentric region of chromosome 17

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SCHEMATIC CYTOGENETIC DEPICTION

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SCHEMATIC MOLECULARGENETIC DEPICTION

acc. to UCSC Genome Browser on Human Mar. 2006 assembly [UCSC hg18, 2006]
and available BAC-data/ array-data from cases marked *** mentioned below [MB]

 

critical region 17.75 --- 18.68 uncritical region [22.10 centromere 23.20] uncritical region 23.32 --- 24.75 critical region

Below adapted for UCSC hg19, 2009

critical region 17.89 --- 18.74 uncritical region [22.20 centromere 25.80] uncritical region 26.32 --- 27.72 critical region

 

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Clinical symptoms of centromere-near proximal imbalances

 

chromosomal region	17p - proximal	17q - proximal
symptoms
developmental delay	75 %	100 %
dysmorphic face	63 %	75 %
finger or toe/foot malformations	25 %	25 %
growth retardation	13 %	50 %
heart defect	13 %	0 %
hip problems	13 %	0 %
hypotonia	50 %	50 %
joint problems	25 %	0 %
mental retardation	25 %	25 %
microcephaly	13 %	0 %
overgrowth	13 %	0 %
scoliosis	13 %	25 %
seizures	13 %	0 %
vision impaired	0 %	33 %
number of cases (marked with “°” below)	8	4

 

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References

Cases without clinical findings (O)

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17-O- p11.2/ 1-1	male/ 40y	PBL	de novo	47,XY,+mar[10]/ 46,XY[5]	min(17)(:p11.2→q11.1:) FISH-data: RP11-746M1 (20.82) on sSMC	cenM; subcenM	ICSI-patient of 40 years; primary sterility due to asthenospermia	{1} case 25 {2} case shown in Fig. 10 {3} case 13 {43} case 94 {63} case 17-1
	17-O- p11.2/ 2-1	see McCl-17-O-p11.2/2-1
	*** 17-O- p11.2/ 3-1 ***	female/ prenatal	AF	de novo	47,XX,+mar[90%]/ 46,XX[10%]	min(17)(:p11.2→q11.2:) array: 18.68-23.32 MB	cenM; subcenM, midi; array-CGH, UPD-test	at 2 years: Normal child - without malformations, dysmorphology nor delay of psychomotor development	{0} provided by Joana Melo, Coimbra, Portugal
	17-O- p11.1/ 1-1	female/ prenatal	AF	de novo	47,XX,+mar[100%]	min(17)(:p11.1→q11.1:)*	all cep probes and probes for 17p11.2 and 17p13.3	prenatal cytogenetics due to a previous child with Angelman syndrome; normal child born; normal at 18m	{52} {62} case 16

 

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17- CO-1	female/ prenatal	AF	de novo	47,XX,+mar[36]/ 46,XX[17]	r(17)(::p1?1→q1?1::)*	centromeric probes, wcp 17	amniocentesis due to advanced maternal age; normal at age of 3m	{25} case 30

 

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References

Cases with clinical findings (W)

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17-W- p13.3/ 1-1	see 17-Uc-1
	17-W- p13.3/ 2-1	female/ 20m	PBL	de novo	47,XX,+min(17) (pter→q11:)[60%] / 46,XX[40%]	n.a.	n.a.	see below	{17}
		pregnancy and birth uneventful; At 20m psychomotor retardation; frontal bossing; antimongoloid slant of eyes, small nose with wide nasal bridge, hypertelorism, narrow palpebral fissures, low-set ears, mild clinodactyly of right 5th digit; hypotonia
	17-W- p13.3/ 3-1	n.a./ prenatal	fetus	n.a.	47,XX,+mar[100%]	der(17)(pter→q11.1: :q11.1→pter)	aCGH	early abortion	{68}
	17-W- p12/ 1-1 °	female/ 2y	PBL	de novo	47,XX,+mar[70%]/ 46,XX[30%] at age of 2y - at age of 8.5y mar present in only 50%	min(17)(:p12→q11.1:)*	CGH; wcp17; D17Z1; Smith-Magenis- probe in 17p12	see below	{4}
		pregnancy and delivery normal, antipodes anus in newborn period, suffered from severe constipation till age of 18 months; hypotonia and psychomotor delay from age of 9 months on; at age of 8.5y 125cm tall, 27.4kg and OFC of 52cm; squared face, somewhat bitemporal diameter with dolichocephaly shape of the skull, mildly down slating palpebral fissures, high arched palate; mild to moderately mental retarded.
	17-W- p12/ 1-2 °	male/ 2.5y	PBL	de novo	47,XY,+mar[51]/ 46,XY[9]	min(17) (:p12→q11.1:)	locus-specific FISH-probes as specified in {12} plus micro satellite markers; UPD-test	see below	{12; 14}
		Born in gestational week 41 by caesarean section; weight: 3350g, APGAR 3/6/8; developmental delay; significant feeding difficulties, oval face, large nose, prominent ears; moderate hypotonia
	17-W- p12/ 2-1 °	female/ 2y	PBL	de novo	47,XX,+r[6]/ 46,XX[39]	r(17)(::p12→q11::)	different FISH-probes: cep; wcp, SMS-probe in 17p11.2; MDS-probe in 17p13.3	see below	{34} case 17
		Uneventful pregnancy; born at term by Caesarian section; Birth weight 3.6 kg. During neonatal period feeding difficulties and bilateral dislocation of the hips was noted. Concern first arose because of mild delay in acquisition of verbal skills at around 2y. At 3y limited vocabulary of 20-30 words; motor and skills also showed mild delay; head circumference and length fell on the 2nd and 50th centile, respectively.; bad folded helices, deep-set eyes, thin upper lip, ful1 lower lip, macroglossia macrostomia, maxillary hypoplasia, bilateral single transverse palmar creases, discrepancy in hand size, long narrow feet, generalized joint laxity, scoliosis abnormality.
	17-W- p12/ 2-2 °	n.a./ prenatal	PBL	de novo	47,+mar[60%]/ 46[40%]	r(17)(::p12→q11::)*	n.a.; subcenM 3 BACs	see below	{9}
		Clubbed feet on ultrasound; increased risk for Down syndrome on serum screen. No follow-up data available
	17-W- p12/ 3-2 °	female/ prenatal	AF and PBL	de novo	47,XX, +mar[27-41%]/ 46,XX[73-59%]	r(17)(::p12→q11::)*	CGH; all cep, M-FISH - LSI SMS (latter not on mar)	see below	{47} case 4
		postnatal developmental delay, speech delay, left Totrocolis, left 3rd digit laxity, poor eye contact
	17-W- p12/ 3-3	male/ prenatal	CH	de novo	47,XY,+r[75%]/ 46,XY[25%]	r(17)(::p12→q12::) array: 11.18-30.66 MB	different FISH probes: cep17; wcp 17; array-CGH	normal at birth; slightly retarded at age of 2y	{0} {8} case 11
	17-W- p12/ 4-1	female/ 4y	PBL	de novo	47,XX,+mar[5]/ 46,XX[50]	min(17)(:p1?2→q1?2:)	cenM, subcenM	growth and developmental delay; heart defect, unilateral hypoplasia of the iris; feeding problems, no speech, only assisted walking	{0} provided by Jelena Ruml, Belgrade, Serbia
	*** 17-W- p11.2/ 1-1 ° ***	female/ prenatal	Amniocytes/ PBL	de novo	47,XX,+mar[72]/ 46,XX[28] (in PBL)	min(17)(:p11.2→q11.1:)* 17.75 MB - centromeric region	CGH; locus-specific probes; micro-array	see below	{21} case 1934
		mild developmental delay; small iVSD; abnormal EEG; at 4y height 97th centile, weight 50th centile and OFC 97th centile; some minor dysmorphism in the face and long fingers.
	17-W- p11.2/ 1-2 °	male/ 5y	PBL	n.a.	47,XY,+mar[20]	min(17)(:p11.2→q11.1:)* 20.07 MB - centromeric region	SKY; locus-specific probes, array CGH	see below	{21} case 2170
		at birth OFC at 10th centile and weight ~30th centile; postnatal weight ~5th centile; delayed speech and language development; at 5y dwarphism, clinodactyly of 5th finger, joint laxity and mild hypotonia
	17-W- p11.2/ 2-1 °	female/ 7y	PBL	de novo	47,XX,+mar[48]/ 46,XX[2]	min(17)(:p11.2→q10:)* PMP22-; SMS+	n.a.; locus-specific probes	see below	{22; 26}
		mental retardation, developmental delay, language impairment, sleep disturbances, mild hypotonia during childhood; seizures since age of 4y; no significant behavioral abnormalities or dysmorphic features.
	17-W- p11.2/ 2-2	female/ n.a.	PBL	de novo	47,XX,+mar[8]/ 46,XX[12]	min(17)(:p11.2→q11.1:)* SMS+	n.a.; locus-specific probes	abnormal	{56}
	17-W- p11.2/ 2-3 °	female/ 4y	PBL	n.a.	47,XX,+mar[60%]/ 46,XX[40%]	min(17)(:p11.2→q11.1:) aCGH: 8.5 MB gain	aCGH	see below	{66}
		developmental delay, language impairment, symptomatic epilepsy, behavioral problems, congenital corneal opacity of the right eye, and dysmorphic features mimic PLS facial appearance
	17-W- p11.2/ 3-1	male/ 7y	PBL	de novo	47,XY,+mar1[2]/ 47,XY,+mar2[1]/ 46,XY[22]	r(17) (::p11.2→q11.2::)[1]/ min(17)(:p11.2→q11.2:)[1]/ min(17)(:p11.2→q11.1:)[2]	cenM, subcenM	Small stature, requested for 22q11 testing.	{0} provided by Dr. J. Vermeesch, Leuven, Belgium
	17-W- p11.2/ 3-2	female/ 6y	PBL	de novo	47,XX,+mar[15]/ 46,XX[5]	r(17) (::p11.2→q11.2::) aCGH: 20.95-23.98 also dup2p23.3p22.3 mat	different FISH-probes, sCGH	Global developmental delay, tall stature and large size	{54} case 9
	17-W- p11.2/ 3-3	male/ 22y	PBL	n.a.	47,XY,+mar[82%]/ 46,XY[18%]	r(17) (::p11.2→q11.2::) aCGH: 21.20-27.80	aCGH cep 17	Tourette syndrome; ADHD and intellectual disability	{64; 65}
	17-W- p11.2/ 3-4	male/ 4y	PBL	de novo	47,XY,+mar[21]/ 46,XY[5]	mar(17)(:p11.2→q11.2:) aCGH [hg19]: 21.71-28.61	aCGH	speach delay (10 single words at 4y), lack of social competence, impulsive, agressive; motor mile stones normal	{0} provided by Dr. Kamphausen, Magdeburg, Germany
	17-W- p11.1/ 1-1 °	male/ 20m	PBL	de novo	47,XY,+r[8]/ 46,XY[12]	r(17)(::p11.1→q21::)	different alpha satellite probes; midi	see below	{19}
		patient born 3w prematurely after normal pregnancy; birth weight 2400g; developmental delay; never developing speech; severe respiratory allergies, asthma, croup, ear infections; scoliosis; calcaneovalgus deformity of feet, bilateral cataracts at 22y, hypoplastic optic nerves, dematerialized bone structure; at 38y profound mental retardation - IQ 20; OFC at 10. centile; height and weight <5. centile; abnormal ears; heart murmur; severe kyphoscoliosis; hypotonia.
	*** 17-W- p11.1/ 2-1 ° ***	male/ newborn	PBL	n.a.	47,XY,+mar[13]/ 46,XY[17]	min(17)(:p11.1→q11.2:) aCGH: 23,086,100-32,754,790 MB	cenM; subcenM; aCGH	developmental delay	{0} provided by Jasen Anderson, Brisbane, Australia
	17-W- p11.1/ 2-2	see 17-Ud-2
	17-W- p11.1/ 3-1	male/ postnatal?	PBL?	n.a.	47,XY,+mar[93%]/ 46,XY[7%]	mar(17)(:p11.1→q11.2:)	array-CGH	abnormal	{49} case 30218
	17-W- p11.1/ 4-1 °	male/ 2y	PBL; buccal mucosa	de novo	47,XY,+mar[35]/ 46,XY[52] in buccal muccosa: sSMC in 32%	min(17)(:p11.1→q11.2:) aCGH: size ~10MB	FISH, ceps and RAI1 aCGH	short stature, minor facial dysmorphic features and developmental delay (especially speech delay); Potocki-Lupski syndrome	{51} case 1
	*** 17-W- p11.1/ 4-2 ° ***	female/ 3y	PBL	de novo	47,XX,+mar[100%]	min(17)(:p11.1→q11.2:) aCGH: break in q at 27.72MB (hg19)	FISH, aCGH	DD, facial abnormalities, gastroesophagial reflux, polycystic ovary, supernumerary nippel, hypotonia	{60}
	17-W- p11.1/ 4-3	female/ 4y	PBL	de novo	47,XX,+mar[100%]	min(17)(:p11.1→q11.2:) aCGH: break in q at 27.71 Mb (hg19)	FISH, aCGH	see below	{69}
		born after 36 wog: weight 2600 g (10th-25th percentile), length 47 cm (25th-50th percentile), OFC 32cm (25th-50th percentile). At 2 months gastroesophageal reflux. Walking at 18 months; first words at 3 years. Craniofacial features: round face, microstomia, small chin and down-slanting palpebral fissures, small lobules of both ears, myopia and anisometropi, mild general hypotonia with hypoplasia of orbicular oris muscle and levatorangulioris muscle, supernumerary nipple on the left side, proximal placement of the thumbs and polycystic ovary, small hypopigmented skin lesion on right thigh.. Speech skills delayed for at least 1.5 years. Poor social interactions and severe hyperactivity. Once a year she is re-evaluated by the clinical geneticist. Her developmental abilities are constantly improving but are still delayed for her biological age. At the age of 4 she uses limited number of words in few-word sentences and understands simple commands. Her speech is sometimes still unclear and problems with hyperactivity persist. At 4.2 years developmental quotient to be 0.68, representing significant development delay.
	17-W- p11.1/ 5-1	male/ prenatal	AF/ PBL	de novo	AF: 47,XY,+mar[12]/ 46,XY[15] PBL: 47,XY,+mar[27]/ 46,XY[13]	min(17)(:p11.1→q11.2:) aCGH: break in q 27.73MB (hg19)	aCGH	VSD, DD and speech delay.	{67}

 

W-Cases with similar imbalances NOT caused by sSMC (W-IMB):

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result and FISH result incl. grade of mosaicism	test methods	clinical symptoms	reference
	17-W- IMB- p12/ 1-1	male/ prenatal	AF; PBL	de novo	46,XY,der(21)t(17;21)(p12;p11.1)	SKY	see below	{30}
		large cystic hygroma in 15 week of gestation; directly postnatal: aortic coarctation, left equinovarus deformity, bilateral dilated urethra, deep-set ears, prominent nasal tip, smooth philtrum, single transverse crease on right hand, redundant neck skin folds, length 25th centile, weight normal, OFC 75th centile. At 7months: weight <5th centile, length 5th centile, OFC 10th centile
	17-W- IMB- p12/ 2-1 to 2.2	2 cases with partial trisomy 17p12→p11.2 are summarized in Ref {32-33}						{32, 33}
	17-W- IMB- p11.2/ 1-1	female/ 5y	PBL	de novo	46,XY,dup(17)(p11.2q11)	n.a.	see below	{37}
		normal pregnancy, at birth weighing 3.035 kg, length 51 cm, head circumference 34 cm. cord wrapped tightly around neck causing cyanosis but was resuscitated easily -> APGAR score 8 at 2 min. At 3 months feeding difficulties and failure to thrive. Narrow palpebral fissures, antimongoloid slant to the eyes, large down-turned mouth, high arched palate and micrognathia, somewhat pointed ears, and muscular hypotonicity. At 2.5 years prolonged left-sided convulsion associated with a febrile illness. Delayed neurological development was noted at 9 months and subsequent development was retarded in all spheres. She walked at 3.5 years, and at 4 years verbal comprehension level was 1 05 years and her expressive language level was 1 04 years.
	17-W- IMB- p11.2/ 2-1	male/ 1.5y	PBL	de novo	46,XY,dup(17)(p11.2p11.2)	locus specific probes	Alport syndrome	{36}
	17-W- IMB- p11.2/ 2-2	male/ 3y	PBL	de novo	46,XY,ins(5;17)(p13.1;p12p11.2)	midi	multiple anomalies	{70}
	17-W- IMB- p11.2/ 2-many	46,dup(17)(p11.2p11.2) - can also be Charcot Marie Tooth disease {38} and Potocki-Lupski syndrome {39} see also {45}						{38; 39; 42, 45}
	17-W- IMB- q11.1/ 1-1	male/ 5y	PBL	de novo	46,XY,dup(17)(q11.1q12) aCGH: 22.66-35.06 MB	aCGH	psychomotor delay and minor abnormalities	{53}

W-cases with unclear/insufficient characterization of the sSMC (CW):

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17- CW-1	female/ n.a.	PBL	de novo	47,XX,+mar[94]/ 46,XX[6]	min(17)	different FISH-probes: centromeric probe p17H8	see below	{5}
		Delivery occurred after 32 weeks of gestation by cesarean section due to premature rupture of membranes. Birth weight 1,640 g; club feet, low birth weight, but no perinatal complications. Sitting without support at 10 m; walking at 13 m; speech was delayed and learning disabilities → school for handicapped children. Visual impairment due to myopia. At age 15 years, she presented with short stature (145 cm; <3rd centile), probably associated with hGH deficiency, and obesity (64 kg; 90th centile); short, broad neck, cubitus and  gena valga bilaterally; hands and feet small; clinodactyly of the 5th digits and slight radial deviation of both bands; hallucesbroad and short; gaps present between 1st and 2nd, and 2nd and 3rd toes; nails of the 5th toes were hypoplastic; skin thick and hyper pigmented in the cervical, axillary and inguinal areas. Face and body hypertrichosis; Sexual development normal.
	17- CW-2	see 17-W-p12/3-3
	17- CW-3	female/ 4y	PBL	de novo	48,XX,+marx2[40%]/ 47,XX,+mar[40%]/ 46,XX[12%]	min(17)	midi	growth retardation, delayed speech development; muscle weakness	{15} case C
	17- CW-4	n.a./ n.a.	n.a.	n.a.	47,+mar[?%]	mar(17)	FISH with ?	developmental abnormal	{24} 1 case

 

 

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References

Cases with unclear clinical correlation (U)

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17- U-1	see mult 2-8
	17- U-2	n.a./ postnatal?	PBL?	n.a.	47,+mar[2%]/ 46[98%]	min(17)(:q?→p1?2:)*	n.a.	n.a.	{13}
	17- U-3	n.a./ prenatal	AF	n.a.	n.a.	min(17)(:p11.?2→q11.2~12:)	acro M; M-FISH	Amniocentesis due to advanced maternal age; no clinical details available	{10} case 14
	17- U-4	male/ prenatal	AF PBL (EKF- cellbank)	de novo	47,XY,+mar[100%]	dic(17)(:p11.1→q11.1: :q11.1→q11.2:)	cenM, subcenM	see below	{0} provided by Drs Schulze/Schmidt, Hannover, Germany
		Amniocentesis due to advanced maternal, born in week 37+ 5, mature newborn, slight musc. hypotonia, initially problems with respiration, no dysmorphism; Birth weight 2650g; length 48cm, OFC 33cm
	17- U-5	male/ prenatal	AF	de novo	47,XY,+mar[18]/ 46,XY[7]	min(17)(:p11.1→q11.1:)	cenM, subcenM; UPD-test	advanced maternal age, repeated aborts, no information on newborn	{0} provided by Dr. Mehnert (Neu-Ulm Hannover, Germany)
	17- U-6	see mult 2-27
	17- U-7	see McCl-17-U-p10/1-1
	17- U-8	female/ prenatal	AF	de novo	47,XX,+mar[100%]	min(17)(:p11.1→q11.2:) aCGH: 21,028,000-22,130,000	cenM, subcenM	advanced maternal age; sonography normal; TOP	{0} provided by Genzyme, USA
	17- U-9	male/ prenatal	AF	de novo	47,XY,+mar[100%]	min(17)(:p11.1→q12:) aCGH: 22.05-33.96 MB midi aCGH: 28,404,609-30,001,780 MB	midi, subcenM, aCGH	see below	{0} provided by Dr. Lange, Marburg, Germany
		amniocentesis due to handicapped child in first pregnancy; After sSMC detection TOP; no autopsy; child without visible malformations.
	17- U-10	female/ prenatal	AF	n.a.	47,XX,+mar[10]/ 46,XX[12]	min(17)(:p11.1→q11.1:)	cep, MLPA	amniocentesis due to advanced maternal age	{50} case 19
	17- U-11	female/ 7y	PBL	de novo	47,XX,+mar[40] aCGH: del 57.37-58.21MB sSMC derived from a maternal chr. 17	min(17)(:p11.2→q11.1:)* aCGH: 20.40-22.00 MB	FISH, aCGH	IUGR; postnatal growth retardation, DD, hearing loss, slight facial dysmorphic signs	{55}
	17- U-12	see 17-Ud-1
	17- U-13	female/ prenatal	AF	n.a.	47,XX,+mar[235]/ 46,XX[110]	min(17)(:?p11.1→q1?2:)	BACs	advanced maternal age, TOP	{58}
	17- U-14	female/ prenatal	AF	n.a.	47,XX,+mar[59]/ 46,XX[50]	min(17)(:p11.1→q11.1:)	cenM, subcenM	abnormal serum screening - no further info	{0} provided from Portugal
	17- U-15	female/ prenatal	AF	n.a.	47,XX,+mar[40%]/ 46,XX[60%]	r(17)(::p1?1.2→q1?1.2::)	cenM	normal in sonography; no further info available	{0} provided from Serbia
	17- U-16	female/ prenatal	AF/ PBL	n.a.	AF: 47,XX,+mar[6]/ 46,XX[58]; PBL: 47,XX,+mar[2]/ 48,XX,+2mar[1]/ 46,XX[38]	min(17)(:p11.1→q11.2:)	cenM, subcenM	normal in sonography; no further info available	{0} provided from Serbia
	17- U-17	female/ prenatal	AF	n.a.	47,XX,+mar[100%]	min(17)(:p11.2→q11.1:)	cenM, subcenM	n.a.	{0} provided by Dr. Alves, Portugal
	17- U-18	female/ prenatal	AF	de novo	47,XX,+mar[32]/ 46,XX[8]	min(17)(:p11.2→q11.1:)	aCGH	n.a. and TOP	{71} case 4

 

Cases with complex sSMC (Uc)

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17- Uc-1	male/ prenatal	AF	47,XYqs,+mar[15]	der(17)t(17;acro) (q11;p11.2)		wcp17; SMS-probe; cep17; ß-satellite probe	see below	{16; 59}
		Amniocentesis due to ultrasound abnormalities like cleft lip/palate, multicystic kidneys, IUGR; child born at 38 weeks; APGAR 7/8/-; OFC 30.5cm, length 44cm, weight 2280g (all <5. percentile); two palpable fontanels, small pupils, almost shaped eyes, folded right ear, flat nasal bridge, right cleft lip, incomplete left cleft lip, short sternum, widely spaced nipples; testes descended, hydrocele, small phallus, digit camptodactyly of finger 2 and 3 on right hand; clinodactyly of finger 5 bilateral; transverse palmar creases; hydrocephalus; patent ductus arteriousus, bilateral hydronephrosis, kidney dysplasia, blindness, anemia, hypocalcaemia, metabolic acidosis; significant developmental delay, hypotonia, severe growth retardation; child died at age of 7m due to an infection.

 

Cases with discontinous sSMC (Ud)

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17- Ud-1	female/ 5m	PBL	n.a.	47,XX,+mar[100%]	mar(17)(:q11.1 or p11.1::q22→q23.3 or q22:) aCGH: 22.37-24.32 MB	cenM, subcenM, aCGH	see below	{57; 61}
		mild dysplastic facial features, macrocephaly, deep palmar creases, no feeding problems, normal head, heart and abdomen ultrasound, global developmental delay, hypotonia, recurrent bronchiolitis
	17- Ud-2	male/ 5y	PBL	n.a.	47,XY,+mar[100%]	min(17)(:p11.2→p11.2: :p11.1→q11.1: :q11.2→q11.2:) aCGH: 16.9-19.89, 22.42-23.16 and 23.84-25.67 MB seq[GRCh37] der(17) (q11.2::p11.2-> q11.2::p11.2) chr17:g. [26893603_28644215: :22251490~_cen_26140775: :AAAGGGTTAATTCTTTTA TATGTTGTATTTTAGTAG: :16958801_19954445]add	cenM; subcenM; aCGH NGS	see below	{0; 48; 72, case 4} provided by Manolakos E., Thomaidis L. and Lagou M. Athens, Greece
		born after a 38 weeks uncomplicated pregnancy. Amniocentesis due to advanced maternal age was normal. At birth weight 2,800 g (10th centile), length of 50cm (50th centile) and head circumference = 34 cm (15th percentile), perinatal history was non-significant abnormal. At 2 months admitted to hospital because of urine tract infection; developmental milestones significantly delayed: sat unsupported at 12 m, walked unaided at 22 m, first words at 2.5 y. At 2 y 8 m speech and language delay. On physical examination he was a sociable child with mild dysmorphic facial and body features, (microcephaly, narrow palpebral fissures, small eyes, high-arched palate, low set ears, short hands and fingers and clinodactyly of the 5th finger) but severe global developmental delay - overall developmental level equivalent to 16 months. neurological examination: severely hypotonic with microcephaly H.C. = 46cm (<2nd percentile). height 100 cm (60th centile) weight was 18 kg (75th percentile). MRI scan revealed a big arachnoid cyst near to cysterna magna. At 3.5y sociable child without behavioral difficulties; facial dysmorphic features more evident, especially small size of eyes, epicanthus and broad nasal bridge; functioning at 17 months developmental level with an IQ level less than 46. neurological examination: global hypotonia of trunk and limps and microcephaly HC= 47,6 cm (<2nd centile), but without focal neurological signs. height 107cm (75th centile), weight 20kg (90th centile); same situation at 4.75 y and 5.6 y.

 

Cases with UPD (Uu)

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17- Uu-1

 

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References

Cases with neocentromeres (N)

 

	case no.	gender/ age at diagnosis	studied  material	de novo/ inherited	GTG-banding result grade of mosaicism	final result of the sSMC	test methods	clinical symptoms	reference
	17-N- qt22/ 1-1	see PsMcCl-17-O-q22/1-1

 

N-Cases with similar imbalances NOT caused by sSMC (N-IMB):

 

	case no.	gender/ age at diagnosis	studied material	de novo/ inherited	GTG-banding result and FISH result incl. grade of mosaicism	test methods	clinical symptoms	reference
	17-N- IMB- pter/ 1-1 to mult	11 case with trisomy 17p are summarized in Ref {31} - (4 in ref {37}) see also {44}						{31, see also 37 and 40, 41}
	17-N- IMB- q23/ 1-1 to mult	see {46}						{46}