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[A newborn infant with the xxxxy-syndrome].
Tijdschr Kindergeneeskd 1982; 50(4):112-6TK

Abstract

In a three weeks old infant with dysmorphic features a 49, XXXXY karyotype was demonstrated from chromosome preparations of lymphocytes. In the literature only a few newborn infants have been described with this syndrome. The most frequent symptoms of the syndrome in older patients are mental retardation, dysmorphic signs, hypogonadism and skeletal malformations. In our patient we found a low birth weight, a peculiar facies, in addition to a patent ductus arteriosus, a scoliosis and normal external genitals. The most typical skeletal malformations may develop at a more advanced age.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

dut

PubMed ID

7135379

Citation

Muis, N, et al. "[A Newborn Infant With the Xxxxy-syndrome]." Tijdschrift Voor Kindergeneeskunde, vol. 50, no. 4, 1982, pp. 112-6.
Muis N, Cats BP, Ippel PF, et al. [A newborn infant with the xxxxy-syndrome]. Tijdschr Kindergeneeskd. 1982;50(4):112-6.
Muis, N., Cats, B. P., Ippel, P. F., & Beemer, F. A. (1982). [A newborn infant with the xxxxy-syndrome]. Tijdschrift Voor Kindergeneeskunde, 50(4), pp. 112-6.
Muis N, et al. [A Newborn Infant With the Xxxxy-syndrome]. Tijdschr Kindergeneeskd. 1982;50(4):112-6. PubMed PMID: 7135379.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A newborn infant with the xxxxy-syndrome]. AU - Muis,N, AU - Cats,B P, AU - Ippel,P F, AU - Beemer,F A, PY - 1982/8/1/pubmed PY - 1982/8/1/medline PY - 1982/8/1/entrez SP - 112 EP - 6 JF - Tijdschrift voor kindergeneeskunde JO - Tijdschr Kindergeneeskd VL - 50 IS - 4 N2 - In a three weeks old infant with dysmorphic features a 49, XXXXY karyotype was demonstrated from chromosome preparations of lymphocytes. In the literature only a few newborn infants have been described with this syndrome. The most frequent symptoms of the syndrome in older patients are mental retardation, dysmorphic signs, hypogonadism and skeletal malformations. In our patient we found a low birth weight, a peculiar facies, in addition to a patent ductus arteriosus, a scoliosis and normal external genitals. The most typical skeletal malformations may develop at a more advanced age. SN - 0376-7442 UR - http://www.unboundmedicine.com/medline/citation/7135379/[A_newborn_infant_with_the_xxxxy_syndrome]_ DB - PRIME DP - Unbound Medicine ER -