TL

ChromosOmics - Database

Icon by Leon Liehr

- non-acro-CHROMOSOME -
UNCLEAR

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

References

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!

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
u- C-1 to 3	male and female/ prenatal	AF	familial or de novo	47,+mar	n.a.	n.a.	none or n.a.	{1}
u- C-4	n.a./ postnatal	PBL	familial	47,+mar	n.a.	n.a.	slight MR	{2}
u- C-5	n.a./ postnatal	PBL	n.a.	47,+mar	n.a.	n.a.	multiple anomalies	{3} original literature presently not available
u- C-6 to 10	male and female/ postnatal	PBL	de novo	47,+mar	n.a.	n.a.	multiple anomalies	{4} plus review of literature before 1978
u- C-11 to 25	male and female/ prenatal and postnatal	AF and PBL	familial or de novo	47,+mar	n.a.	n.a.	multiple anomalies or normal	{5}
u- C-26	male/ 16y	PBL	de novo	48,XY,+r,+mar[43%]/ 47,XY,+r[14%]/ 47,XY,+mar[18%]/ 46,XY[25%]	n.a.	n.a.	Hypogonadotrophic hypogonadism; several developmental milestones delayed, hypoplastic kidney, spina bifida oculta in L4, 5; MR	{6}
u- C-27	male/ prenatal	AF	paternal 3/50 metaphases with mar	47,XY,+r?[7]/ 46,XY[1]	n.a.	wcpX, wcpY	AMA	{7} case 5
u- C-28	female/ 5y	PBL/ fibroblasts	de novo	47-51,XX,+mar1-5x/ [17.3%/33.6%/ 30%/18.2%/0.9%] 46,XX[2.7%]	n.a.	n.a.	multiple anomalies as described in {9}	{9}

Cases with complex sSMC (Uc)

in {14} case 2 a complex sSMC is suggested after aCGH
(Arr [GRCh37]7q11.23(74,175,031_74,566,129) × 1,10q11.22q11.23(49,730,919_50,395,827) × 3,10q26.13q26.3(124,383,733_135,426,386) × 2~3,14q23.2(63,970,519_64,284,284) × 1,Yp11.2(7643,38_8,808,561) × 2 VOUS)
however, karyotype was mos 47,XY,+mar[5]/46,XY [45] - thus aCGH cannot be informative here and results are hard to interprete and where not vervied by other methods.

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
u- Uc- 1	female/ postnatal	PBL	n.a.	47,XX,+mar[60%]/ 46,XX[40%]	ish der(3 or 11) t(3;11)(q26.3qter; q23.3qter) (RP11–362K14+; RP11–496N6+)	aCGH FISH	DD, seizures, trichotillomania, behavior problems, madelung deformity	{13} case P14
u- Uc- 2	male/ 30y	PBL (EKF- cellbank)	n.a.	47,XY,+mar[50%]/ 46,XY[50%]	der(21q21.1→21q21.1::9q33.3→9q34.1: :15q21.2→15q21.2::14q21.1→14q21.1: :8q12.3→8q12.3::14q21.2→14q21.2: :8q22.3→8q23.1::14q21.1→14q21.1: :8q21.1→8q21.1:)	aCGH midi and reverse FISH Bionano	psychological problems, infertile, obesity, gynekomastia	{16}
u- Uc- 3	male/ 5y	PBL	mat	47,XY,+mar[?100%] neocentric	ins(12;4)(q24.33;q24q28)), a deletion of the chromosomal region 12q2?3-q24.33 on the same homolog and an additional supernumerary small marker chromosome and gain of 4q24-q28	aCGH FISH	DD, microcephaly, hexadactyly	{15}

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
u- Ud- 1	-	-	-	-	-	-	-	-

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
u- Ud- 1	-	-	-	-	-	-	-	-