Molecular mapping of a Yq deletion in a patient with normal stature.
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.
Rousseaux-Prévost
R
R
Institut de Recherche sur le Cancer, Lille, France.
Rigot
J M
JM
Delobel
B
B
Lesur
P
P
Collier
F
F
Croquette
M F
MF
Gauthier
A
A
Mazeman
E
E
Rousseaux
J
J
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
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins