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Article

45,X/46,X dic (Y) mosaicism in a phenotypic male.

Archives of disease in childhood - 1 Feb 1991

Batstone P J, Faed M J, Jung R T, Gosden J

Abstract excerpt

Cytogenetic analysis, confirmed by in situ hybridisation studies, showed a mosaic 45,X/46,X dic (Y) (q12) karyotype in a 14 year old boy who was initially diagnosed as having Noonan's syndrome. He made an early response to recombinant growth hormone; this suggests that this treatment may improve final height.

Topics

Adolescent
Female
Growth Hormone
Humans
Mosaicism
Noonan Syndrome
Phenotype
Recombinant Proteins
Sex Chromosome Aberrations
Y Chromosome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2001114
DOI: 10.1136/adc.66.2.252
PMCID: PMC1792831

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2001114-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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