Buscar
Mostrando ítems 21-30 de 78
Interstitial deletion of 13q22→q31: Case report and review of the literature
(2006)
In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22→q31. After the review of the literature, few cases sharing similar chromosomal deletions were ...
Interstitial deletion of 13q22?q31: Case report and review of the literature
(2006)
In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22?q31. After the review of the literature, few cases sharing similar chromosomal deletions were ...
Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1)
(2010)
Rieger syndrome (RS; OMIM 180500) is a rare autosomal dominant disorder of morphogenesis, with ocular and systemic abnormalities and variability in phenotypic expression. Some patients with RS presented with a deletion of ...
A de novo interstitial 6q deletion in a boy with a split hand malformation
(2007)
We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous ...
Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 -> pter and partial trisomy 1q41 -> qter suggests neo-telomere formation in stabilizing the deleted chromosome
(Wiley-Blackwell, 2006-01-01)
We report on a clinical and molecular cytogenetic study of a patient who presents a complex chromosomal rearrangement with two different cell lines. Using high-resolution GTG handing and fluorescence in situ hybridization ...
Extending the Phenotype of Monosomy 1p36 Syndrome and Mapping of a Critical Region for Obesity and Hyperphagia
(WILEY-LISS, 2010)
Rearrangements of 1p36 are the most frequently detected abnormalities in diagnostic testing for chromosomal cryptic imbalances and include variably sized simple terminal deletions, derivative chromosomes, interstitial ...
A de novo interstitial 6q deletion in a boy with a split hand malformation
(2007)
We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous ...