A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION

• Published in: Genetic counseling Vol. 26; no. 2; pp. 153 - 161
• Main Authors: Eid, M O, Eid, M M, Kamel, A K, El-Ruby, M, Abdel-Salam, G M H
• Format: Journal Article
• Language: English
• Published: Switzerland 2015
• Subjects: Abnormalities, Multiple - genetics; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 20 - genetics; Chromosomes, Human, Pair 7 - genetics; Female; Humans; Intellectual Disability - genetics
• ISSN: 1015-8146

Duplication of the short arm of chromosome 7 is a genomic disorder presenting with distinctive facies including hypertelorism, large anterior fontanel, and intellectual disability. A 2½-year-old Egyptian girl was referred because of cleft palate and dysmorphic features. She showed clinical manifestations of duplication of 7p, along with atypical features of corpus callosum hypogenesis and skeletal anomalies. Chromosome analyses revealed unbalanced translocations involving the short arms of chromosomes 7 and 20 due to malsegregation of a paternal balanced translocation 7;20. Fluorescence in situ hybridization analysis (FISH) of the female patient showed partial trisomy 7p and a subtelomeric monosomy 20p. Thus, the karyotype of our patient is 46,XX,der(20) (7pter --> 7p13::20p13 --> 20qter). In this report, we present the clinical phenotype of this patient with duplication of 7p and review the literature.