title: Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
abstract: Interstitial deletions of 10q are rare, and only one patient with a deletion confined to chromosome band 10q22 has been reported so far. We report on a 2 6/12-year-old girl with a constitutional interstitial deletion of one homologue of 10q [karyotype: 46,XX,del(10)(q22.2q22.3)de novo]. Our patient had muscular hypotonia, developmental delay, growth retardation, mild facial dysmorphism, and hypoplastic labia minora. The precise location and extent (3.6 Mb) of the deletion was determined by fluorescence in situ hybridization (FISH) using 16 YAC and BAC clones. The clinical features in our patient are remarkably similar to the previously reported patient with a 10q22.2 deletion.
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
authors.forename: Ines
authors.initials: I
authors.lastname: Krause-Plonka
authors.forename: Corinna
authors.initials: C
authors.lastname: Menzel
authors.forename: Andreas
authors.initials: A
authors.lastname: Knoblauch
authors.forename: Holger
authors.initials: H
authors.lastname: Toennies
authors.forename: Maria
authors.initials: M
authors.lastname: Hoeltzenbein
authors.forename: Michael
authors.initials: M
authors.lastname: Radke
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009123:Muscle Hypotonia / Q000473:pathology; D014844:Vulva / Q000002:abnormalities