title: Molecular mapping of a Yq deletion in a patient with normal stature.
abstract: The proximal long arm of the Y chromosome probably contains a gene (GCY) involved in stature determination. Recent reports have proposed the critical region extends from interval 4B to interval 5G (or 5E). In the present study, the deletion breakpoint in a male adult patient of normal height with a 46,X,del(Yq) karyotype was defined by the use of sequence-tagged site markers. The breakpoint was found between sY78 (interval 4B) and sY79 (interval 5A). The existence of a normal stature in this patient suggests that the growth determinant is proximal to sY79, therefore probably located in interval 4B or in proximal interval 5A of the Y chromosome.
authors.affiliation: Institut de Recherche sur le Cancer, Lille, France.
authors.forename: R
authors.initials: R
authors.lastname: Rousseaux-Prévost
authors.forename: J M
authors.initials: JM
authors.lastname: Rigot
authors.forename: B
authors.initials: B
authors.lastname: Delobel
authors.forename: P
authors.initials: P
authors.lastname: Lesur
authors.forename: F
authors.initials: F
authors.lastname: Collier
authors.forename: M F
authors.initials: MF
authors.lastname: Croquette
authors.forename: A
authors.initials: A
authors.lastname: Gauthier
authors.forename: E
authors.initials: E
authors.lastname: Mazeman
authors.forename: J
authors.initials: J
authors.lastname: Rousseaux
mesh_terms: D000328:Adult; D001827:Body Height; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D000075364:Deleted in Azoospermia 1 Protein; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D009845:Oligospermia / Q000235:genetics; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics; D012661:Semen; D016324:Sequence Tagged Sites; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins