title: Double partial monosomies (10p- and Xp-) in a female baby with choanal atresia.
abstract: Chromosomal abnormalities involving double partial monosomies are very rare. A female infant with non-mosaic monosomy 10p13-->10pter along with monosomy Xp11.4-->Xpter which arose de novo is described. The clinical manifestations of this patient included microcephaly, mild synophrys, short and down-slanted palpebral fissures, ptosis of the left eye, long eyelashes, a depressed nasal bridge, dysplastic ears, micrognathia, a short neck. sensorineural hearing impairment, and severe growth retardation. Left choanal atresia and laryngomalacia were detected by flexible fibroscopy. No signs of hypoparathyroidism or defective cellular immunity could be found. Fluorescence in situ hybridization (FISH) with whole-chromosome painting probes for chromosomes 10 and X was performed, which excluded the possibility of cryptic translocations of the involved chromosome segments. No submicroscopic chromosome 22q11 deletion could be found by FISH. Thus this very rare coexistence of double independent partial monosomies was confirmed. There are no previous reports of such concurrent double partial monosomies.
authors.affiliation: Department of Pediatrics, Chang Gung Children's Hospital, Taoyuan, Taiwan, ROC. houjw741@cgmh.org.tw
authors.forename: Jia-Woei
authors.initials: JW
authors.lastname: Hou
mesh_terms: D002754:Choanal Atresia / Q000235:genetics*; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D014960:X Chromosome