Case Reports
Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter
- PMID: 6971607
Item in Clipboard
Case Reports
Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter
Ann Genet.
1980.
Abstract
A case of 2q trisomy in a malformed female infant resulting from unbalanced segregation of maternal origin is reported. The mother and one of the proposita's sibs where found to be carriers of balanced translocation 2;17. Two other members in the kindred had died with multiple malformations. The patient's karyotype was 46,XX,-17, + der (17)t(2;17)(q32;q25)mat.
Similar articles
-
Partial 3p trisomy and different rearrangements involving chromosome 3 in the proposita's family.Am J Med Genet. 1980;5(1):25-33. doi: 10.1002/ajmg.1320050105. Am J Med Genet. 1980. PMID: 7395898
-
An infant with trisomy 9pter yields 9q22 resulting from 3:1 segregation in a 46,XX t(1;9) (p36;q22) mother.Ann Genet. 1979;22(3):151-4. Ann Genet. 1979. PMID: 316670
-
[Partial trisomy (10pter leads to 10q21) and partial monosomy (21pter leads to 21q21) due to a reciprocal balanced familial translocation (10;21)(q21;q21) (author's transl)].Ann Genet. 1980;23(4):216-20. Ann Genet. 1980. PMID: 6971599 French.
-
Duplication 16q12----qter arising from 3:1 segregation in a 46,XX,t(13;16) (q12;q12) mother.Ann Genet. 1990;33(2):121-3. Ann Genet. 1990. PMID: 2241087 Review.
-
Molecular analysis of a complex chromosomal rearrangement and a review of familial cases.Am J Med Genet. 1994 Nov 15;53(3):255-63. doi: 10.1002/ajmg.1320530311. Am J Med Genet. 1994. PMID: 7856662 Review.
Cited by
-
Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.Hum Genet. 1984;68(1):77-86. doi: 10.1007/BF00293878. Hum Genet. 1984. PMID: 6500560
-
Abnormal chromosome complement resulting from a familial inversion of chromosome 2.J Med Genet. 1989 Nov;26(11):725-9. doi: 10.1136/jmg.26.11.725. J Med Genet. 1989. PMID: 2479747 Free PMC article.