21
Sep
Ring chromosome 7 syndrome
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Ring formation on chromosome 7 is very rare. A ring chromosome is formed when two ends of a chromosome fuse together, forming a ring structure; this can happen with or without terminal chromosomal deletions. Clinical manifestations of ring chromosome 7 syndrome, r(7), include growth and developmental delay, speech delay,... Read More
01
Sep
Distal 13q deletion syndrome in a fetus with esophageal atresia
Previous literature has categorized 3 groups of the 13q deletion syndromes: 1) proximal deletions not extending into q32, 2) more distal deletions including at least of part of q32, 3) most distal deletions involving q33-34. Kotani et al. introduce a Japanese female infant with a prenatal diagnosis of 13q deletion... Read More
01
Sep
Multisuture craniosynostosis: unusual finding in chromosome 14q32 deletion
Craniosynostosis is defined as the premature fusion of the cranial sutures that result in abnormal head shapes and restrained cranial growth. It can manifest syndromic and yield multisutural fusions. Multisuture craniosynostosis is associated with many syndromes, but only ~12% of syndromic craniosynostosis cases are caused by chromosomal abnormalities. Chaisrisawadisuk et... Read More
28
Apr
Partial Tetrasomy 6p comparable to Trisomy Distal 6p Phenotype
Tetrasomy 6p caused by a small supernumerary marker chromosome presenting Trisomy distal 6p Phenotype. A small supernumerary marker chromosome (sSMC) is a structurally abnormal additional chromosome that most often lacks a distinct banding pattern and is difficult to identify by conventional banding cytogenetic analysis. Approximately 70% of such chromosomes occur... Read More
31
Jan
Partial trisomy 6p
Partial trisomy 6p is a rare chromosomal anomaly associated with low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects and renal abnormalities. In most previously reported cases trisomy 6p was associated with the partial monosomy of another chromosome, often due to parental balanced translocation. This further... Read More
