Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.
Duplications of the long arm of the X chromosome are rare. The infantile phenotype shares some resemblance with the Prader-Willi syndrome, presenting severe psychomotor retardation, facial dysmorphic features with a broad face, a small mouth and a thin pointed nose, hypotonia, urogenital malformation and proneness to infections. We report a boy with an additional Xq27-qter chromosome segment translocated onto the short arm of chromosome 3. The karyotype was 46,XY,der(3)t(X;3)(q27.3; p26.3)mat. This cryptic unbalanced X-autosome translocation resulted in Xq27-qter functional disomy and a deletion 3p26.3. A detailed analysis of the constitutional chromosomal changes in the patient was performed using array-CGH, FISH and PCR. The aim was to characterize the size and the location of the duplication Xq27-qter (8.18 Mb) and of the deletion 3p26.3 (1.05 Mb), to establish phenotype-genotype correlations and to offer genetic counselling.
Cytogenetics and Reproductive Biology Department, Farhat Hached University Teaching Hospital, Avenue Ibn Eljazzar, 4000 Sousse, Tunisia. inessebenabdallah@yahoo.fr
Inesse
I
Ben-Abdallah-Bouhjar
Hanene
H
Hannachi
Audrey
A
Labalme
Abir
A
Gmidène
Soumaya
S
Mougou
Najla
N
Soyah
Moez
M
Gribaa
Damien
D
Sanlaville
Hatem
H
Elghezal
Ali
A
Saad
D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics