Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.
نویسندگان
چکیده
A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q24.3). The concurrence of these two abnormalities is a rare event and has not been reported previously.
منابع مشابه
Goldenhar Syndrome and Pericentric Inversion of Chromosome 9
Oculo-auriculovertebral dysplasia (Goldenhar) is a congenital syndrome. Its phenotype differs from craniofacial anomalies to cardiac, vertebral or central nervous system defects. This syndrome is rare and its etiology is not apparent yet. Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations with its incidences 15% to 25%. Herein we present ...
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We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical fin...
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1 Howard-Peebles PN, Stoddard GR. Pericentric inversions of chromosome number 9: benign or harmful. Hum Hered 1979;29:111-7. 2 Leonard C, Hazael-Massieux P, Bocquet L, Larget-Piet L, Boue J. Inversion pericentrique inv(2)(pl1ql3) dans les familles non apparent6es. Hum Genet 1975 ;48 :121-8. 3 van der Linden AGJM, Pearson PL, van de Kamp JJP. Cytological assessment of meiotic exchange in a human...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 29 1 شماره
صفحات -
تاریخ انتشار 1992