title: Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.
abstract: We describe a 5 2/12 years old male patient with a de novo deletion 1q43q44 of approximately 10.4 Mb in size. The boy presented with the classic features of chromosome 1q43q44 deletion syndrome including growth and psychomotor retardation, microcephaly, distinct facial features and various midline defects as agenesis of corpus callosum, cardiac and urogenital anomalies. Fronto-parietal simplified gyral pattern was an additional neuroimaging finding. The urogenital anomalies in our patient were remarkable in form of bladder exstrophy and severe hypogenitalism with a marked hypoplastic scrotum, small sized retractile testis and absent phallus. To the best of our knowledge, bladder exstrophy and absence phallus have not been previously reported in terminal deletion 1q43q44 syndrome. This report provides further evidence of phenotype-genotype correlation and expands the phenotypic spectrum of midline defects described with this syndrome.
authors: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Egypt. mszaki60@internetegypt.com
authors: M S
authors: MS
authors: Zaki
authors: G
authors: G
authors: Gillessen-Kaesbach
authors: I
authors: I
authors: Vater
authors: A
authors: A
authors: Caliebe
authors: R
authors: R
authors: Siebert
authors: A K
authors: AK
authors: Kamel
authors: A M
authors: AM
authors: Mohamed
authors: I
authors: I
authors: Mazen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D061085:Agenesis of Corpus Callosum / Q000235:genetics / Q000473:pathology; D001746:Bladder Exstrophy / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D056726:Genetic Association Studies; D005820:Genetic Testing; D005832:Genital Diseases, Male / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D059906:Neuroimaging; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics / Q000473:pathology