Syndrome +12p. Case report and review
- PMID: 924448
- DOI: 10.1007/BF00273157
Syndrome +12p. Case report and review
Abstract
Familial 12/15 translocation with a child trisomic for the short arm of chromosome 12 (segment of 12.1 leads to pter) is reported. The clinical picture of the child is strikingly similar to previous reports of 12p trisomy. The main symptoms of 12p syndrome are defined.
Similar articles
-
12P trisomy: a syndrome?Ann Genet. 1976 Dec;19(4):261-3. Ann Genet. 1976. PMID: 1087857
-
[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].Ann Genet. 1975 Jun;18(2):81-7. Ann Genet. 1975. PMID: 1081369 French.
-
[Partial 7q trisomy].Ann Genet. 1975 Mar;18(1):67-70. Ann Genet. 1975. PMID: 1080040 French.
-
Trisomy 9p in a patient with a de novo 9/15 translocation.Clin Genet. 1975 Apr;7(4):317-24. doi: 10.1111/j.1399-0004.1975.tb00335.x. Clin Genet. 1975. PMID: 1126053
-
A case of trisomy 9p in a family with translocation 9/15.Humangenetik. 1975;27(4):353-8. doi: 10.1007/BF00278432. Humangenetik. 1975. PMID: 1150257 No abstract available.
Cited by
-
Translocations involving chromosome 12. I. A report of a 12,21 translocation in a woman with recurrent abortions, and a study of the breakpoints and modes of ascertainment of translocations involving chromosome 12.Hum Genet. 1981;58(2):144-8. doi: 10.1007/BF00278699. Hum Genet. 1981. PMID: 7286999
-
Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18p.Hum Genet. 1978 Nov 24;45(1):63-9. doi: 10.1007/BF00277574. Hum Genet. 1978. PMID: 730182
-
New chromosomal dysmorphic syndromes. 4. Trisomy 12p.Eur J Pediatr. 1981 Jul;136(3):249-62. doi: 10.1007/BF00442992. Eur J Pediatr. 1981. PMID: 7262097
-
Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations.Hum Genet. 1979 Apr 5;47(3):253-60. doi: 10.1007/BF00321017. Hum Genet. 1979. PMID: 457115
-
Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy.Hum Genet. 1979 Jan 25;46(2):135-40. doi: 10.1007/BF00291913. Hum Genet. 1979. PMID: 422196