title: Short stature in a mother and daughter with terminal deletion of Xp22.3.
abstract: Short stature in females is often caused by hemizygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysis. In both individuals, the deleted X chromosome was late replicating. Molecular analysis suggested that the deletion is terminal and the breakpoint was localized between the STS and DXS7470 loci in Xp22.32. Chromosome analysis is often done on females with short stature to exclude Ullrich-Turner syndrome. Small deletions, terminal or interstitial, are easily missed by conventional cytogenetic investigation; thus molecular analyses are useful to detect those cases.
authors.affiliation: Institut für Humangenetik, Medizinische Universität zu Lübeck, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
authors.forename: M
authors.initials: M
authors.lastname: Kirschstein
authors.forename: M
authors.initials: M
authors.lastname: Greiwe
authors.forename: T
authors.initials: T
authors.lastname: Konermann
authors.forename: U
authors.initials: U
authors.lastname: Orth
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D000328:Adult; D001192:Arylsulfatases / Q000235:genetics; D001827:Body Height / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003937:Diagnosis, Differential; D018900:Dinucleotide Repeats; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D043266:Steryl-Sulfatase; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D001192:Arylsulfatases; D043266:Steryl-Sulfatase