TL

ChromosOmics - Database

Icon developed and provided by Leon B. Liehr, Jena, Germany

- CHROMOSOME #4 -
NEOCENTRIC

Cases without clinical findings	Similar imbalances – no sSMC
Cases with clinical findings	Similar imbalances – no sSMC
Cases without clear clinical correlation	Cases with discontinous sSMC
Cases with complex sSMC	Cases with UPD and sSMC
Cases with neocentromeres	Similar imbalances
Tumor	DISCLAIMER

In general 70% of sSMC carriers are clinically normal. The figures listed above

are based on the bias, that mainly clinically aberrant cases are studied and reported in literature!

UPD(4)mat or pat

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
04- N- q22.1/ 1-1	see McCl-04-N-q22.1/1-1							{16; 18; 19; 27}
04- N- q26/ 1-1	female/ prenatal	AF	de novo	47,XX,+mar[52]/ 46,XX[48]	mar(4)(:q26→q31.21:) NGS: 117,39-145,23 MB	NGS	sonographic abnormalities; heart defect; polydactyly; TOP	{47}

other 2 neocentromere 4 cases (no sSMC):

Warburton PC, Barwell J, Splitt M, Maxwell D, Bint S, Ogilvie CM.
Class II neocentromeres: a putative common neocentromere site in band 4q21.2.
Eur J Hum Genet. 2003;11(10):749-753.
Amor DJ, Bentley K, Ryan J, Perry J, Wong L, Slater H, Choo KH.
Human centromere repositioning "in progress".
Proc Natl Acad Sci U S A. 2004;101(17):6542-6547.

Cases with neocentromeres (N) - TUMOR

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
04- N- q/ 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 and final FISH result	test methods	clinical symptoms	Reference
04- N- IMB- pter/ many	dup 4p; 75 cases summarized in {30}						{30; 32}
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