التفاصيل البيبلوغرافية
| العنوان: |
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and Café-au-Lait Macules and Review of the Literature. |
| المؤلفون: |
Malinverni, Andréa C.M., Yamashiro Coelho, Érika M., Chen, Kelin, Colovati, Mileny E., Soares Pinho Cernach, Mirlene C., Bragagnolo, Silvia, Melaragno, Maria Isabel melaragno.maria@unifesp.br |
| المصدر: |
Cytogenetic & Genome Research. Jan2018, Vol. 153 Issue 2, p81-85. 5p. 1 Diagram, 1 Chart. |
| مصطلحات موضوعية: |
*CAFE-au-Lait spots (Disease), *MUSCLE dysmorphia, *CHROMOSOMAL translocation, *CHROMOSOMES, *PHENOTYPES |
| مستخلص: |
Partial monosomy 21 results in a great variability of clinical features that may be associated with the size and location of the deletion. In this study, we report a 22-month-old girl who showed a 45,XX,add(12)(p13)dn,-21 karyotype. The final cytogenomic result was 45,XX,der(12)t(12; 21)(p13;q22.11) dn,-21.arr[hg19] 21q11.2q22.11(14824453_33868129)×1 revealing a deletion from 21pter to 21q22.11. Clinical manifestation of the patient included hypertonia, a long philtrum, epicanthic folds, low-set ears, and café-au-lait macules - a phenotype considered as mild despite the relatively large size of the deletion compared to patients from the literature. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
Academic Search Index |
