A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes

A Matheisel; M Babinska; J Wierzba; A Wozniak; B Nedoszytko; A Balcerska; J Limon

A case with 47,XXY,del(11)(q23) karotype-coexistence of Jacobsen and Klinefelter syndromes

Genet Couns. 2000;11(3):267-71.

Authors

A Matheisel¹, M Babinska, J Wierzba, A Wozniak, B Nedoszytko, A Balcerska, J Limon

Affiliation

¹ Department of Biology and Genetics, Medical University of Gdansk, Poland.

PMID: 11043435

Abstract

A case with 47,XXY, del(11)(q23) karyotype-coexistence of Jacobsen and Klinefelter syndromes: A two-year-old dysmorphic male child was found to have 47,XXY,del(11)(q23) karyotype. Domination of the clinical features of Jacobsen syndrome was observed: mild mental retardation, trigonocephaly, ptosis, downward slanting palpebral fissures, low set ears, carp-shape mouth and micrognathia. Transient thrombocytopenia and leukopenia were also present. Over the following five years gynecomastia and eunuchoid body proportions became evident as clinical features of Klinefelter syndrome. This is the first description of the coexistence of both syndromes.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Brain / pathology
Child, Preschool
Chromosome Aberrations / genetics*
Chromosome Deletion
Chromosome Disorders
Chromosome Fragility
Chromosomes, Human, Pair 11 / genetics*
Craniofacial Abnormalities / complications
Craniofacial Abnormalities / genetics*
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability / complications
Intellectual Disability / diagnosis
Intellectual Disability / genetics
Karyotyping
Klinefelter Syndrome / complications
Klinefelter Syndrome / diagnosis
Klinefelter Syndrome / genetics*
Magnetic Resonance Imaging
Male
Monosomy / genetics
Syndrome