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PMID: 1177284 Published · ppublish English Case Reports Journal Article

Partial 9 trisomy by 3:1 segregation of balanced maternal translocation (7q+; 9q-).

Journal of medical genetics ·Vol. 12 ·No. 3 ·1975-09-00 ·Pages 301-5

Penehaszadeh VB, Coco R

Abstract

A male infant is presented with an extra derivate chromosome No. 9 resulting from a 3:1 meiotic segregation of a maternal balanced translocation involving the long arms of chromosomes No. 7 and 9. The patient is trisomic for the short arm and secondary constriction of the long arm of No. 9 and for the telomeric end of the long arm of No. 7. In addition to the features of the 9p trisomy syndrome he presents marked congenital myopia and extreme hypoplasia of the penis.

MeSH Terms
Chromosome Aberrations Chromosomes, Human, 6-12 and X Dermatoglyphics Humans Infant Karyotyping Male Myopia/congenital Pedigree Penis/abnormalities Translocation, Genetic Trisomy
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Penehaszadeh V B
Coco R
References (6)
6 references, click to expand
  1. [Giemsa-R-banding analysis of the trisomy 9p and report of a new case].
    Humangenetik. 1973 Apr 16;18(2):129-38 PMID: 4124236
  2. A new case of trisomy for the short arm of No. 9 chromosome.
    J Med Genet. 1973 Sep;10(3):296-9 PMID: 4774540
  3. Presumed trisomy for the short arm of chromosome No. 9 not due to inherited translocation.
    Humangenetik. 1971;12(3):175-81 PMID: 5563410
  4. [4 cases of trisomy for the short arm of chromosome 9. Individualization of a new morbid entity].
    Ann Genet. 1970 Dec;13(4):217-32 PMID: 5313386
  5. [Partial trisonomy C9 in a case of balanced maternal B4-C9 translocation].
    Z Kinderheilkd. 1971;109(4):293-9 PMID: 5555168
  6. [Cp trisomy: a new syndrome].
    Ann Genet. 1971 Sep;14(3):177-86 PMID: 5315464
Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
0022-2593
Published
1975-09-00
Pages
301-5
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC1013295
Subset
IM
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