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Table 1 Demographics data, phenotypes, molecular techniques used for characterization of sSMC: FISH (probes used indicated) and/or CGH or CGH array

From: Molecular characterization of a complex small supernumerary marker chromosome derived from chromosome 18p: an addition to the literature

 

1. Mabboux et al. [12]

2. Rodriguez et al. [13]

3. Sheth et al. [14]

4. Plaja et al. [9]

Patient 1

5. Plaja et al. [9]

Patient 2

6. Present case

Final

karyotype

47,XY,+mar.ish der(13/21)t(13/21;18)(q10;p11.21)

47,XY,+mar.ish der(13/21)t(13/21;18)

47,XX,+mar

47,XX,+der (13)t(13;18)(p11;q11.2)-13,+der(13;15)(p11;q11.1)

47,XY,+der(13)t(13;18)(p11;11.2)

47,XY,+mar.arr(18p11.32p11.21)(14257-14122546 bp) X3

Origin

De novo

Maternal (mother with mild mental retardation)

De novo

De novo

De novo

De novo

Sex

M

M

F

F

M

M

Age

13 years

2 months

13 years

17 years

V month of pregnancy

7 years

Phenotype

Mild mental retardation, mild face dysmorphic features, bilateral cryptorchidism

Club foot, defect in the atrial septum

Microcephaly, psychomotor delay, hypotonia followed by hypertonia, apnea, epilepsy hypertelorism, clinodactyly.

Non syndromic moderated intellectual disability

Single umbilical artery

Cognitive and speech delay

FISH performed and result ± of signal on SMC

WCP 13,18, 18p,21 13/21É’sat 18 É’ sat;BAC clones 18p;BAC clone13q; BAC clone 21q; PAC probe per NOR; subtel 18p

Dj1174A5+,D13Z1/D21Z1+,D18Z1-,wcp18+,wcp18p+,D18S552+

Multicolour FISH 13/21É’sat,18 É’sat subcen13, subcen21 subbcen18

D13Z1+D21Z1+D18Z1-sbcen13- subcen21-subcen18+

Not performed

PW and Angelman subtel 15, centr 15,13/21 centr, 14/22 centr, centr 18,

D13Z1/D21Z1+, D18Z1-, centr15-

PW e Angelman, 13/21 cent,18 centr. Spec.

D13Z1/D21Z1+, D18Z1-

D13Z1/D21Z1+

Whole-genome array platform

CGH

no

Array CGH 4X 44 K

Array CGH 4X180K (SureprintG3 Human)

Array CGH 8X60K

Array CGH 4X180k

Size of duplication

Complete 18p trisomy

Complete 18p trisomy

15 Mb

From 18pter to 18p11.21

13,98 Mb

From 118760 bp (18p11.32) to 14102527 bp

(18p11.21)

14,9 Mb

From 14316 bp (18p11.32) to 14928854 bp

(18p11.21)

14,11 Mb From 14257 bp (18p11.32 to 14122546 bp (18p11.21)

Mentioned genes involved in the trisomy

–

MC2R, TYMS, LAMA1, YES1, NADH, NDUFV2, PTPN2, ERV1

67 genes

44 genes, from USP14

(158483 bp) to MC2R

(13915535 bp)

44 genes, from USP14 (158483 bp) to MC2R (13915535 bp)

123 HGNC genes. 64 are protein-coding genes

  1. Size of the duplication and genes involved in this case and in the others cases of trisomy 18p due to sSMC reported in literature
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Molecular Cytogenetics

ISSN: 1755-8166