9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

Sonoda, T; Ohba, Ken‐ichi; Ohdo, Shigehiro; Sameshima, Koji

doi:10.1007/bf01876811

Cited by 6 publications

(1 citation statement)

References 16 publications

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“…The normal chromosome 9 is on the left, the inversion 9 is in the middle, and the recombinant duplicationdeficiency chromosome 9 is on the right. more segmental aneusomy than the child described here had 46,XX,rec(9),dup(9q),inv(9)(p22q32)pat [Mattei et al, 1980;Sonoda et al, 1991]. Both of these patients had the phenotype of partial trisomy 9q, but in contrast to the child reported here, they had few, if any, of the findings of partial monosomy 9p.…”

Section: Discussioncontrasting

confidence: 69%

Constitutional mosaicism for a chromosome 9 inversion resulting in recombinant aneusomy in an offspring

et al. 1997

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We report on a case of constitutional mosaicism for a large pericentric inversion of chromosome 9 in a man whose daughter had recombinant aneusomy resulting in partial 9q duplication and partial 9p deletion. At age 6 months, the girl was evaluated because of congenital anomalies [corrected] and developmental delay. Chromosomal analysis on this infant showed a derivative chromosome 9 which was later determined to be a recombinant chromosome with trisomy of 9q34.1-->qter and monosomy of pter-->9p24. Chromosomal analysis in her father showed the presence of two cell lines; 75% of lymphocytes had a 46,XY pattern, and 25% had a 46,XY,inv(9)(p24q34.1) karyotype. The infant's physical findings represent a composite of the reported cases of both trisomy 9q34.1-->qter and monosomy pter-->9p24. The infant's father was phenotypically and cognitively normal. This case broadens the spectrum of reported cases of mosaicism for an autosomal structural rearrangement generating unbalanced gametes, and further supports the tenet that constitutional mosaicism has clinical relevance for genetic counseling.

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Section: Discussioncontrasting

confidence: 69%