title: Trisomy 9 mosaicism and XX sex reversal.
abstract: We report on a case of a phenotypic male infant who was referred to the genetics service due to dysmorphic features and congenital cardiac anomalies. Dysmorphic features included low-set, posteriorly rotated ears with squared, simple helices, midface hypoplasia, a broad nasal root with wide nasal alae, small mouth, micrognathia, short neck, overlapping fingers, rocker-bottom feet, prominent heels, and hypoplastic toenails. The phallus was normal and no testes were palpable in the scrotal sac. Cardiac anomalies included tricuspid atresia and a ventricular septal defect. The karyotype was 46,XX. Diagnostic microarray demonstrated evidence for trisomy 9 mosaicism, metaphase FISH revealed trisomy 9 on 7% of cultured cells, and interphase FISH analysis of a peripheral blood smear showed trisomy 9 in 78% of the cells examined. This is the first reported case of XX sex reversal in a patient with trisomy 9 mosaicism.
authors.affiliation: Department of Pediatrics, Children's National Medical Center, Washington, District of Columbia, USA. bsolomon@cnmc.org
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Clesson E
authors.initials: CE
authors.lastname: Turner
authors.forename: Darren
authors.initials: D
authors.lastname: Klugman
authors.forename: Susan E
authors.initials: SE
authors.lastname: Sparks
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002899:Chromosomes, Human, Pair 9; D020732:Cytogenetic Analysis; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D014314:Trisomy