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PMID: 689689 Published · ppublish English Case Reports Journal Article

Partial trisomy-5p.

Human genetics ·Vol. 43 ·No. 2 ·1978-08-31 ·Pages 231-7

Yunis E, Silva R, Egel H, Zúñiga R, Torres de Caballero OM, Ramirez E, Poveda de Ruiz H

Abstract

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.

MeSH Terms
Abnormalities, Multiple/genetics Child Chromosomes, Human, 4-5 Dermatoglyphics Humans Intellectual Disability/genetics Karyotyping Male Pedigree Syndrome Trisomy
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Yunis E
Silva R
Egel H
Zúñiga R
Torres de Caballero O M
Ramirez E
Poveda de Ruiz H
References (7)
7 references, click to expand
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    Ann Genet. 1968 Dec;11(4):247-52 PMID: 5306368
  2. [Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].
    Ann Genet. 1966 Sep;9(3):113-22 PMID: 5298289
  3. A partial trisomy 5p syndrome.
    Birth Defects Orig Artic Ser. 1975;11(5):191-200 PMID: 1218213
  4. [Reverse type of cri du chat disease: 5 p trisomy].
    Arch Fr Pediatr. 1975 Jun-Jul;32(6):551-61 PMID: 1180635
  5. Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.
    Am J Hum Genet. 1967 Jul;19(4):586-603 PMID: 6036276
  6. [FAMILIAL SEGREGATION OF A 5-13 TRANSLOCATION DETERMINING PARTIAL MONOSOMY AND A TRISOMY OF THE SHORT ARM OF THE 5 CHROMOSOME: "CAT CRY" DISEASE AND ITS "RECEPROCAL"].
    C R Hebd Seances Acad Sci. 1964 Jun 8;258:5767-70 PMID: 14161436
  7. Partial trisomy 5 with a carrier parent t(5p-;9p+).
    Clin Genet. 1976 Apr;9(4):437-40 PMID: 1261081
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1978-08-31
Pages
231-7
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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