Recurrence of Pallister-Hall syndrome in two sibs

Recurrence of Pallister-Hall syndrome in two sibs

We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a domin...

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Veröffentlicht in:Journal of medical genetics 1994-02, Vol.31 (2), p.145-147
Hauptverfasser: Thomas, H M, Todd, P J, Heaf, D, Fryer, A E
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple
Biological and medical sciences
Complex syndromes
Female
Fingers - abnormalities
Hamartoma
Head - abnormalities
Humans
Hypopituitarism
Hypothalamic Diseases - congenital
Infant, Newborn
Male
Medical genetics
Medical sciences
Nuclear Family
Polydactyly
Syndrome
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Beschreibung
Zusammenfassung:We report the first definite sib recurrence of Pallister-Hall syndrome in a family without a cytogenetically visible chromosome abnormality. The father of these two sibs was born with nearly identical digital abnormalities and could represent either mild expression or gonosomal mosaicism for a dominant gene.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.31.2.145