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[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].
Z Kinder Jugendpsychiatr. 1994 Jun; 22(2):130-4.ZK

Abstract

This is a case report on a 19-year-old patient with the chromosome constellation 48, XYYY. The patient showed signs of dysmorphism, mental retardation and problems in psychosocial functioning. A literature review revealed that individuals with this karyotype have widely varying phenotypes with regard not only to physical signs but also to brain functions and cognitive performance.

Authors+Show Affiliations

Abteilung für Kinder- und Jugendpsychiatrie am Psychiatrischen Landeskrankenhaus Weinsberg.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

8053267

Citation

Stein, A, et al. "[Sex Chromosome Aberration With the 48 XYYY Karyotype. a Case Report of the Phenotype of a Rare Sex Chromosome Aneuploidy]." Zeitschrift Fur Kinder- Und Jugendpsychiatrie, vol. 22, no. 2, 1994, pp. 130-4.
Stein A, Heilbronner H, Jungmann J. [Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy]. Z Kinder Jugendpsychiatr. 1994;22(2):130-4.
Stein, A., Heilbronner, H., & Jungmann, J. (1994). [Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy]. Zeitschrift Fur Kinder- Und Jugendpsychiatrie, 22(2), 130-4.
Stein A, Heilbronner H, Jungmann J. [Sex Chromosome Aberration With the 48 XYYY Karyotype. a Case Report of the Phenotype of a Rare Sex Chromosome Aneuploidy]. Z Kinder Jugendpsychiatr. 1994;22(2):130-4. PubMed PMID: 8053267.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy]. AU - Stein,A, AU - Heilbronner,H, AU - Jungmann,J, PY - 1994/6/1/pubmed PY - 1994/6/1/medline PY - 1994/6/1/entrez SP - 130 EP - 4 JF - Zeitschrift fur Kinder- und Jugendpsychiatrie JO - Z Kinder Jugendpsychiatr VL - 22 IS - 2 N2 - This is a case report on a 19-year-old patient with the chromosome constellation 48, XYYY. The patient showed signs of dysmorphism, mental retardation and problems in psychosocial functioning. A literature review revealed that individuals with this karyotype have widely varying phenotypes with regard not only to physical signs but also to brain functions and cognitive performance. SN - 0301-6811 UR - https://www.unboundmedicine.com/medline/citation/8053267/[Sex_chromosome_aberration_with_the_48_XYYY_karyotype__A_case_report_of_the_phenotype_of_a_rare_sex_chromosome_aneuploidy]_ L2 - http://www.diseaseinfosearch.org/result/45 DB - PRIME DP - Unbound Medicine ER -