Pericentric inversion and partial monosomy 4q associated with congenital anomalies

Pericentric inversion and partial monosomy 4q associated with congenital anomalies

A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter leads to 16::q24 leads to p16::q32 leads to qter) is reported in an infant with congenital anomalies and psychomotor retardation.

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Veröffentlicht in:Human genetics 1977-01, Vol.39 (2), p.239-242
Hauptverfasser: Serville, F, Broustet, A
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
Azure Stains
Chromosome Inversion
Chromosomes - ultrastructure
Chromosomes, Human, 4-5
Female
Humans
Infant
Karyotyping
Psychomotor Disorders - genetics
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Zusammenfassung:A case of complex structural rearrangement of chromosome 4 identified by R-banding as 46,XX,del(4),inv(4)(pter leads to 16::q24 leads to p16::q32 leads to qter) is reported in an infant with congenital anomalies and psychomotor retardation.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00287019