26 Deletion of Chromosome No. 18 (Long Arm). A New Syndrome
نویسندگان
چکیده
منابع مشابه
De novo interstitial deletion in the long arm of chromosome 9: a new chromosome syndrome.
An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duo...
متن کاملSyndrome associated with a deficiency of part of the long arm of chromosome no. 18.
In 1964 de Grouchy, Royer, Salmon, and Lamy described a deaf and mentally retarded microcephalic girl in whom the long arm of one No. 18 chromosome was about half its usual length. Since then two other microcephalic children, a boy and a girl, have been found to have this chromosome aberration (Lejeune, Berger, Lafourcade, and R6thore, 1966). Lejeune suggested on the basis of their findings tha...
متن کاملPartial deletion of the long arm of chromosome 4: a clinical syndrome.
1 Howard-Peebles PN, Stoddard GR. Pericentric inversions of chromosome number 9: benign or harmful. Hum Hered 1979;29:111-7. 2 Leonard C, Hazael-Massieux P, Bocquet L, Larget-Piet L, Boue J. Inversion pericentrique inv(2)(pl1ql3) dans les familles non apparent6es. Hum Genet 1975 ;48 :121-8. 3 van der Linden AGJM, Pearson PL, van de Kamp JJP. Cytological assessment of meiotic exchange in a human...
متن کاملInterstitial deletion of the distal long arm of chromosome 4.
We report the first case of an interstitial deletion of the distal long arm of chromosome 4 (q31.22----q34.2). The major clinical features are described and compared to those of other published reports of del 4q, mainly those sharing a common deleted segment with the present case (both interstitial and terminal). This comparison suggests that the characteristic phenotype attributed to terminal ...
متن کاملInterstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.
We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as c...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Research
سال: 1967
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-196705000-00033