A case of interstitial 1q deletion [46,XY,del(q25q32.1)].
A 10-year-old male with interstitial deletion of chromosome 1[46,XY,del(1)(q25q32.1)] is reported. Clinical features of the patient included dwarfism, severe mental retardation, microcephaly, flat nasal bridge, low-set ears, short neck, brachydactyly, clinodactyly of the 5th fingers and bilateral cryptorchidism. Comparison of phenotypic characteristics of the present case with those of six cases previously described with similar deletions of chromosome 1 permits the delineation of an identifiable syndrome.
Hamano
S
S
Department of Pediatrics, Jikei University School of Medicine, Tokyo, Japan.
Fukushima
Y
Y
Yamada
T
T
Shimizu
H
H
Okuyama
M
M
Ito
F
F
Maekawa
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male