Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay
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چکیده
منابع مشابه
Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.
We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long arm of chromosome 3 are extremely rare, having been reported in five cases, only two of which had terminal 3q deletions.
متن کاملPartial monosomy 8p with minimal dysmorphic signs.
A female patient with a 46,XX,del(8)(p23----pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.
متن کاملA familial unbalanced subtelomeric translocation resulting in monosomy 6q27-->qter.
Subtelomeric rearrangements have recently gained considerable interest through publications indicating that they may be a major cause for unexplained mental retardation and/or multiple congenital anomalies. 2 As the subtelomeric regions have the highest gene density in the genome, subtelomeric aneusomies are in general thought to have a significant effect on the phenotype. Prenatal onset of gro...
متن کاملMosaic and partial monosomy of chromosome 21 in a case with low platelets count
Background Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. Case report In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Ho...
متن کامل3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay.
We examined a girl presenting neuropsychomotor developmental delay and multiple malformations including antenatal and postnatal growth retardation, congenital heart defect, and facial dysmorphisms. Cytogenetic analysis was performed on peripheral blood lymphocytes with the GTG-banding technique, which revealed an unbalanced translocation: 46,XX,der(13)(13pter→13q34::3p24→3pter)pat. Karyotype an...
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ژورنال
عنوان ژورنال: Gene
سال: 2013
ISSN: 0378-1119
DOI: 10.1016/j.gene.2012.09.008