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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A partial trisomy 5p syndrome.
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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.
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[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"].
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