Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
We describe a 6-month-old female with developmental delay, hypotonia, supernumerary nipples, and distinct craniofacial features. Postnatal chromosome analysis revealed an unbalanced karyotype involving a der (5) and array-CGH defined two unbalanced regions with partial 2.3 Mb deletion of 5q35.3 in combination with a large 19.5 Mb duplication of chromosome 10 from q25.3 to q26.3. Parental karyotyping analysis showed that the father was carrier of a balanced t(5;10)(q35;q25). Two cousins of the proband with similar facial features had the same unbalanced karyotype with presence of the der (5) inherited from the malsegregation of the familial translocation. Additionally, three siblings (two deceased and one abortion) manifested a more severe phenotype including congenital heart defect, cleft palate, and agenesis of the corpus callosum and were diagnosed with unbalanced karyotypes inherited from the familial balanced translocation.
Department of Pediatrics, University of Jordan, Amman, Jordan.
Amira
A
Masri
Stefania
S
Gimelli
Hanan
H
Hamamy
Frédérique
F
Sloan-Béna
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002871:Chromosome Banding; D058674:Chromosome Duplication; D002879:Chromosomes, Human, Pair 10; D002895:Chromosomes, Human, Pair 5; D055028:Comparative Genomic Hybridization; D003410:Cri-du-Chat Syndrome; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy
array-CGH; cleft palate; deletion 5q35; duplication 10q25; dysmorphism; jordan; supernumerary nipples; translocation