Phenotypic manifestation and pericentric inversion 6
نویسندگان
چکیده
منابع مشابه
Prenatal Diagnosis in Pericentric Inversion 6
A four-year-old girl, the proband along with her mother in her subsequent pregnancy was referred to the genetic clinic for evaluation of global developmental delay with a normal karyotype study. On evaluation, dysmorphic features prompted to repeat the karyotype assessment. An unbalanced pericentric inversion of chromosome 6 in the index child was noticed. This was followed by identification of...
متن کاملRieger's syndrome with pericentric inversion of chromosome 6.
Pericentric inversion of chromosome 6 (6p+q-) was found in a girl with Rieger's syndrome and in her father. The only ocular signs in the father were prominent iris mounds and Schwalbe's line. The association of chromosomal anomalies with Rieger's syndrome indicates the need for a chromosome banding test in familial or sporadic patients with the syndrome and in patients with mild anomalies of th...
متن کاملGoldenhar 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 ...
متن کاملConstitutional pericentric inversion of chromosome 9 and chronic myeloid leukemia
In the present study, we screened the bone marrow chromosome database entries between March, 2004 and December, 2013 to identify cases with inv(9) along with t(9;22) variations. Our study recorded 2300 cases of confirmed CML (Ph positive), of which only 12 (0.52%) cases had inv(9) and t(9;22). The association between inv(9) and t(9;22) is not fully explored. Therefore more number of cases is re...
متن کاملFamilial pericentric inversion (10) and its effect on two offspring.
A pericentric inversion (10)(p15q24) was observed in three generations of a family. One daughter of the inversion carrier was found to have the inv(10) and trisomy 18. The other offspring had a recombinant (10) chromosome.
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ژورنال
عنوان ژورنال: Human Genetics
سال: 1981
ISSN: 0340-6717,1432-1203
DOI: 10.1007/bf00282839