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Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
Eur J Med Genet. 2005 Apr-Jun; 48(2):159-66.EJ

Abstract

We report on an infant who had been prenatally diagnosed with Klinefelter syndrome associated with a "de novo" pericentric inversion of the Y chromosome. A re-evaluation at 3 years of age suggested that he was also affected by Beckwith-Wiedemann syndrome (BWS). Karyotype was repeated and fluorescence in situ hybridisation (FISH) analysis revealed trisomy for 11p15.5-->11pter and a distal monosomy 18q (18q23-->qter). Parental cytogenetic studies showed that the father carried a balanced cryptic translocation between chromosomes 11p and 18q. Furthermore, the child had an extra X chromosome and a "de novo" structural abnormality of chromosome Y. Thus, his karyotype was 47,XX, inv (Y) (p11.2 q11.23), der(18) t (11;18) (p15.5;q23) pat. ish der(18) (D11S2071+, D18S1390-). Two markers on the X chromosome showed that the extra X of the child was paternally inherited. No deletions were observed on the structurally abnormal Y chromosome from any of the microsatellites studied. Clinical findings of patients with BWS due to partial trisomy 11p reveal that there is a distinct pattern of dysmorphic features associated with an increased incidence of mental retardation when comparing patients with normal chromosomes. This fact reinforces that FISH study have to be performed in all BWS patients, specially in those with mental retardation since small rearrangements cannot be detected by conventional cytogenetic techniques.

Authors+Show Affiliations

Delicado A
Department of Genetics, Hospital Universitario La Paz, Madrid, Spain. adelicado.hulp@salud.madrid.org
Lapunzina P
No affiliation info available
Palomares M
No affiliation info available
Molina MA
No affiliation info available
Galán E
No affiliation info available
López Pajares I
No affiliation info available

MeSH

AneuploidyBeckwith-Wiedemann SyndromeChild, PreschoolChromosome DeletionChromosome InversionChromosomes, Human, Pair 11Chromosomes, Human, Pair 18Chromosomes, Human, XChromosomes, Human, YGenetic MarkersHumansIn Situ Hybridization, FluorescenceIntellectual DisabilityKaryotypingKlinefelter SyndromeMalePhenotype

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16053907

Citation

Delicado, Alicia, et al. "Beckwith-Wiedemann Syndrome Due to 11p15.5 Paternal Duplication Associated With Klinefelter Syndrome and a "de Novo" Pericentric Inversion of Chromosome Y." European Journal of Medical Genetics, vol. 48, no. 2, 2005, pp. 159-66.
Delicado A, Lapunzina P, Palomares M, et al. Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. Eur J Med Genet. 2005;48(2):159-66.
Delicado, A., Lapunzina, P., Palomares, M., Molina, M. A., Galán, E., & López Pajares, I. (2005). Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. European Journal of Medical Genetics, 48(2), 159-66.
Delicado A, et al. Beckwith-Wiedemann Syndrome Due to 11p15.5 Paternal Duplication Associated With Klinefelter Syndrome and a "de Novo" Pericentric Inversion of Chromosome Y. Eur J Med Genet. 2005 Apr-Jun;48(2):159-66. PubMed PMID: 16053907.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y. AU - Delicado,Alicia, AU - Lapunzina,Pablo, AU - Palomares,María, AU - Molina,Maria Antonia, AU - Galán,Enrique, AU - López Pajares,Isidora, Y1 - 2005/03/02/ PY - 2005/8/2/pubmed PY - 2005/9/16/medline PY - 2005/8/2/entrez SP - 159 EP - 66 JF - European journal of medical genetics JO - Eur J Med Genet VL - 48 IS - 2 N2 - We report on an infant who had been prenatally diagnosed with Klinefelter syndrome associated with a "de novo" pericentric inversion of the Y chromosome. A re-evaluation at 3 years of age suggested that he was also affected by Beckwith-Wiedemann syndrome (BWS). Karyotype was repeated and fluorescence in situ hybridisation (FISH) analysis revealed trisomy for 11p15.5-->11pter and a distal monosomy 18q (18q23-->qter). Parental cytogenetic studies showed that the father carried a balanced cryptic translocation between chromosomes 11p and 18q. Furthermore, the child had an extra X chromosome and a "de novo" structural abnormality of chromosome Y. Thus, his karyotype was 47,XX, inv (Y) (p11.2 q11.23), der(18) t (11;18) (p15.5;q23) pat. ish der(18) (D11S2071+, D18S1390-). Two markers on the X chromosome showed that the extra X of the child was paternally inherited. No deletions were observed on the structurally abnormal Y chromosome from any of the microsatellites studied. Clinical findings of patients with BWS due to partial trisomy 11p reveal that there is a distinct pattern of dysmorphic features associated with an increased incidence of mental retardation when comparing patients with normal chromosomes. This fact reinforces that FISH study have to be performed in all BWS patients, specially in those with mental retardation since small rearrangements cannot be detected by conventional cytogenetic techniques. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/16053907/Beckwith_Wiedemann_syndrome_due_to_11p15_5_paternal_duplication_associated_with_Klinefelter_syndrome_and_a_"de_novo"_pericentric_inversion_of_chromosome_Y_ DB - PRIME DP - Unbound Medicine ER -