TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME #20 -
NEOCENTRIC

Cases without clinical findings	Similar imbalances – no sSMC
Cases with clinical findings	Similar imbalances – no sSMC
Cases with isochromosome 20p
Cases without clear clinical correlation	Cases with discontinous sSMC
Cases with complex sSMC	Cases with UPD and sSMC
Cases with neocentromeres	Similar imbalances – no sSMC
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(20)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
20- N- pt11.2/ 1-1	see PsMcCl-20-W-p11.2/1-1
20- N- qt13.33/ 1-1	n.a./ postnatal	PBL	de novo	47,XN,+mar[?%]	inv dup(20)(qter→q13.33: :q13.33→qter)	aCGH	MR	{59; 62}

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
20- N- p or 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
20- N- IMB- pter/ 1-1 to mult	see {40}						{40}
20- N- IMB- p12/ 1-1 to 1-2	see {38-39}						{38-39}
20- N- IMB- p13/ 1-1	female/ 13m	PBL	maternal ins(20)(p13q11.21q13.33)	46,XX,rec(20)dup(20p)dir ins(20)(p13q11.21q13.33)mat	BAC-FISH	see below	{36}
20- N- IMB- p13/ 1-1	At birth 3,000 g (full term pregnancy); generalized tonic seizures at ages 1, 3, and 13 months that were controlled with Phenobarbital. Discrete facial DYS with large forehead, mild hypertelorism, long prominent nose, short upper lip, and dysplastic ears but no trigonocephaly or microcephaly; anterior anal placement and asymmetric thigh folds, mild ataxia, psychomotor DD
20- N- IMB- qter/ 1-1 to mult	see {41}						{41}
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