A girl with partial long-arm deletion of chromosome 11 and familial pericentric inversion of chromosome 9
✍ Scribed by Bernhard Zabel; Susanne Hansen; Ulrike Hillig; Helga Gröting-Imhof
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 310 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
A girl with 46, XX, de1 (11) (q23), inv (9) (p13,q13) is described. The patient shows many dysplastic signs mainly of the face and skull. The pericentric inversion of chromosome 9 has been inherited from the mother (46, XX, inv (9) (p13,q13)).
📜 SIMILAR VOLUMES
## Abstract A patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3→qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Compute
We report on a new chromosomal finding in a newborn male with hypertelorism, apparently low-set malformed ears with patent canal, micrognathia with narrow higharched palate, bilateral webbing of neck with low posterior hairline, widely spaced nipples, and complex heart anomalies. Initially, what app
A partial long arm deletion of one X chromosome was observed in a patient with secondary amenorrhea and with no features of Turner's syndrome. It was shown that the deleted X chromosome was the inactivated one in all metaphases of the lymphocyte culture and of the tissue culture from gonadal biopsy.
Thrombocytopenia or pancytopenia is frequently reported in patients with partial l l q deletion but there are no reports on bone marrow morphology of these patients. We report on a patient with partial deletion of the long arm of chromosome 11 Idel(l1) (q24.2qter)l and its classical clinical manifes