Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?

Tada et al. (1987) reported on increased spontaneous chromosome breakage in a female affected by Shwachman syndrome studied when 1, 3, and 10 months old. Fraccaro et al. (1988) observed a higher number of aberrations per cell in two sisters with this syndrome (10 and 8 months old) when compared to c...

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Veröffentlicht in:Human genetics 1991-01, Vol.87 (1), p.106-107
Hauptverfasser: Koiffmann, C P, Gonzalez, C H, Souza, D H, Romani, E G, Kim, C A, Wajntal, A
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Chromatids
Chromosome Fragility
chromosomes
Humans
Infant
Male
Metaphase
Syndrome
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Zusammenfassung:Tada et al. (1987) reported on increased spontaneous chromosome breakage in a female affected by Shwachman syndrome studied when 1, 3, and 10 months old. Fraccaro et al. (1988) observed a higher number of aberrations per cell in two sisters with this syndrome (10 and 8 months old) when compared to control cultures. The authors suggested that there might be an age-dependent influence. We had the chance to study two Caucasian Brazilian brothers, aged 46 and 25 months, affected by Shwachman syndrome, born to nonconsanguineous healthy parents.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF01213107