First case of Myhre syndrome with schizophrenia
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
CK syndrome: a rare cause of developmental delay in a young boy
We describe a new patient from the Indian subcontinent who presented with dysmorphism, global developmental delay and epilepsy. We also add left ventricular concentric hypertrophy and sensory neuropathy, which have not been reported previously. Our report suggests that CK syndrome may be unrecognized due to limited clinical knowledge and restricted availability of genetic testing. The expansion of the phenotype may also lead to a better understanding of biochemical anomalies and management approaches. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases, PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases Insulin-like growth factor 2 expression and produces a Silver Russell syndrome-like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS, and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
X-Autosome translocations: X-inactivation and effect on phenotype
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Triplication at 5q23.1 to 31.1 including LMNB1 in a patient with dilated cardiomyopathy, scoliosis and joint contractures
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Clinical and molecular characterization of an almost complete ring chromosome 4 in two sisters, with recurrence due to gonadal mosaicism
We describe the clinical features and molecular characterization of two sisters with ring chromosome 4. Karyotype analysis was performed on both sisters and parents. Chromosome microarray was performed on both sisters to delineate the breakpoint imbalance. Both sisters had a large ring 4 chromosome in the majority of cells analyzed on karyotype. Microarray results were identical in the sisters, showing a 55.8 kb duplication on the terminal 4p arm and a 1.5 Mb deletion on the terminal 4q arm. No genes of interest were identified in these regions. Parental karyotypes on lymphocytes and fibroblasts were normal, with no findin...
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature
Conclusions
This is only the 13th KCTD1 variant described and the first report of an in-frame insertion causing clinical features, expanding the mutational spectrum of KCTD1 and SENS. (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - September 9, 2021 Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Rare case of dual diagnosis in consanguineous family: a case report
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Second reported individual with a partial STAG2 deletion: middle interhemispheric variant holoprosencephaly in STAG2-related cohesinopathy
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)
We report a further case of spondylometaphyseal dysplasia – corner fracture type due to the fibronectin-1 gene (SMD-FN1) in a child originally thought to have metaphyseal chondrodysplasia-Brussels type (MCD Brussels). We highlight phenotypic differences with the SMD-FN1 published reports. This case is unique in terms of the method of molecular confirmation. Findings from the 100 000 Genomes Project were originally negative (in both tier 1 and 2); however, subsequent reanalysis, initiated by an automated search for new gene-disease associations in PanelApp, highlighted a candidate diagnostic variant. Our child had short s...
Source: Clinical Dysmorphology - June 17, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type
No abstract available (Source: Clinical Dysmorphology)
Source: Clinical Dysmorphology - June 17, 2021 Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research
