Y microdeletion
Familial inheritance of the 3q29 microdeletion syndrome: case report and review
... recurrent microdeletion have also been described, either with a BAC or low resolution oligonucleotide microarray platform [12, 13, 17, ...3q29 microdeletion syndrome [16, 17, ...
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16p11 2 microdeletion syndrome: a case report
... Case presentation: Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her parents ’ DNA were ...
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Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
... 22q11.2 microdeletion syndrome ...hypocalcaemia. Microdeletion within chromosomal region ...22q11.2 microdeletion syndrome occurs in 1/4000 ...22q11.2 microdeletion in 87 children suffering ...
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An atypical autistic phenotype associated with a 2q13 microdeletion: a case report
... The clinical phenotype is variable, as are the reasons for referral (14, 16, 20, 21). Mild dysmorphic facial features have been reported in the majority of cases. However, there are no patient pictures available, and the ...
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Clinical and molecular characterization of a de novo 19p13.3 microdeletion
... 19p13.3 microdeletion involving a chromo- somal region partially overlapping with the microdele- tion identified by us , our case is the first one to date reported in which the deletion span downstream respect ...
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Bifocal germinoma in a patient with 16p11.2 microdeletion syndrome
... 16p11.2 microdeletion has a population prevalence of approximately 1/2000 (7) and is associated with variable clinical features that include learning difficulties/intellectual disability, social impairment, ...
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Monozygotic Twins with 17q21.31 Microdeletion Syndrome
... 17q21.31 microdeletion syndrome (Koolen-de Vries syndrome, MIM 610443) is a genomic dis- order characterized by intellectual disability (ID), friendly behavior, hypotonia and distinct facial features with thin ...
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Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
... Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital ...
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Chromosome 15q24 microdeletion syndrome
... The clinical characteristics of 15q24 deletion syndrome are based on the clinical features reported in the 19 patients with 15q24 microdeletion and presented in Table 1[1-10]. At birth, approximately one-third of ...
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Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case
... 1q21.1 microdeletion in af- fected and non-affected members of a family with TAR ...The microdeletion was inherited from either the unaffected mother or the unaffected father in 75 % of ...rare ...
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Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
... Background: The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering ...
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Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report
... To date, only one male patient has been reported to carry two neighboring Xp11.22 microdeletions, including CLCN5 and SHROOM4 [7]. The microdeletions were detected by array CGH (180 K) and one had a size of 148 kb and ...
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Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome
... Results: Here we report on a 5 year-old Hungarian girl presenting with severe developmental delay, good receptive language but absent spoken speech, short stature, dystrophy, hypotonia, distinctive facies including broad ...
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Identification of Microdeletion of 7q36.1-qter in Fetal Hemivertebrae with Scoliosis
... a microdeletion with conventional cytogenetic techniques might be owing to the insufficient resolution of ...999-qter) microdeletion of ...7qter microdeletion was detected in the cultured amniocytes ...
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A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
... V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu- Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, ...
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Adult expression of a 3q13.31 microdeletion
... 3q13.31 microdeletion [9] that encompasses all four of the previously proposed neurodevelopmental candidate genes at this locus: DRD3, ZBTB20, LSAMP , and ...
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Evaluation of chromosomal abnormalities and Y chromosome microdeletion in infertile males of 10 families
... congenital (Kallmann syndrome) or secondary in nature. In testicular azoospermia, spermatogenic failure occurs while pituitary and hypothalamus work normally. It may be congenital such as cryptochidism, spermatogenic ...
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NF1 microdeletion syndrome: case report of two new patients
... Its transcribed protein plays a key role in the early stages of brain development, likely regulating neurogenesis. In- deed, it belongs to myelin-associated inhibitor proteins (MAIPs) which are central nervous system ...
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The frequency of Yq microdeletion in azoospermic and oligospermic Iranian infertile men
... showed Y chromosome microdeletions among case group, deletion in AZFc region was the most frequent (80%) followed by AZFb (20%), in AZFa and AZFd region we did not detect any ...of Y chromosome ...
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Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases
... formation (tetralogy of Fallot) and facial dysmorphism. Pediatric geneticist referred the child to us to evaluate for 22q11.2 microdeletion syndrome. The child was born to a 23 year-old mother at 33 weeks 5 days ...
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