TL

ChromosOmics - Database

Icon by Leon Liehr

- CHROMOSOME #16 -
NEOCENTRIC

Specific PATIENTINFORMATION for sSMC(16) - part 1
Specific PATIENTINFORMATION for sSMC(16) - part 2

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 - 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(16)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
16- N- mar/1	n.a./ n.a.	PBL?	n.a.	47,+mar[?]	mar(16)	SKY	possible velocardiofascial syndrome	{14} case 7
16- N- p11.2/ 1-1	see PsMcCl-16-N-p11.2/1-1
16- N- p11.2/ 2-1	male/ prenatal	AF	de novo	47,XY,+mar[11]/ 46,XY[12]	r(16)(p11.2p11.2) aCGH: 29.09-29.51 MB	aCGH	AMA, TOP	{66} case AF-13

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
16- 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
16- N- IMB- pter/ mult	different p-arm duplications see {48}						{48}
16- N- IMB- p13/ 1-1	n.a./ newborn	PBL	de novo	46,dup(16)(pterp13)	wcp 16	multiple congenital anomalies including bilateral cleft of lip and palate, club-hands and feet, and heart defects	{37}
16- N- IMB q23/ 1-1	female/ newborn	PBL	de novo	46,XX,dup(16)(qterq23)	wcp 16	see below	{46}
16- N- IMB q23/ 1-1	cardiopulmonary depression, severe hypotonia, bradycardia, APGAR 5/7; (40th week of gestation) birth weight 1840g, length 45cm, OFC 31 cm; hypertelorism, proptosis, prominent nose, dysmorphic, low set ears, thin upper lip, cleft palate, micrognathia, anteriorly placed anus. at 1 y, severe psychomotor retardation became evident (MRI: diffuse cerebral atrophy)
16- N- IMB- qter/ mult	different q-arm duplications see {49}						{49}
-	-	-	-	-	-	-	-