Biomaterial Database

Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1). 1985

F Shabtai, and U Sandowski, and R Nissimov, and D Klar, and I Halbrecht

A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family reported here, anomaly of chromosome 8 was noted, involving however the proximal part of the 8 long arm, which was interpreted as a paracentric inversion. Whether the anomaly is causally or only casually related to the syndrome is a matter of discussion.

UI	MeSH Term	Description	Entries
D007446	Chromosome Inversion	An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome.	Inversion, Chromosome,Inversion, Chromosomal,Chromosomal Inversion,Chromosomal Inversions,Chromosome Inversions,Inversions, Chromosomal,Inversions, Chromosome
D008214	Lymphocytes	White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.	Lymphoid Cells,Cell, Lymphoid,Cells, Lymphoid,Lymphocyte,Lymphoid Cell
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D008945	Mitral Valve Prolapse	Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA.	Floppy Mitral Valve,Mitral Click-Murmur Syndrome,Systolic Click-Murmur Syndrome,Click-Murmur Syndrome,Mitral Valve Prolapse Syndrome,Prolapsed Mitral Valve,Click Murmur Syndrome,Click-Murmur Syndrome, Mitral,Click-Murmur Syndrome, Systolic,Click-Murmur Syndromes,Floppy Mitral Valves,Mitral Click Murmur Syndrome,Mitral Valve Prolapses,Mitral Valve, Floppy,Mitral Valve, Prolapsed,Mitral Valves, Floppy,Mitral Valves, Prolapsed,Prolapse, Mitral Valve,Prolapsed Mitral Valves,Prolapses, Mitral Valve,Syndrome, Click-Murmur,Syndrome, Mitral Click-Murmur,Syndrome, Systolic Click-Murmur,Syndromes, Click-Murmur,Systolic Click Murmur Syndrome,Valve Prolapse, Mitral,Valve Prolapses, Mitral,Valve, Prolapsed Mitral,Valves, Prolapsed Mitral
D009666	Nose	A part of the upper respiratory tract. It contains the organ of SMELL. The term includes the external nose, the nasal cavity, and the PARANASAL SINUSES.	External Nose,External Noses,Nose, External,Noses,Noses, External
D002871	Chromosome Banding	Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.	Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002906	Chromosomes, Human, 6-12 and X	The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.	Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D005260	Female		Females
D005385	Fingers	Four or five slender jointed digits in humans and primates, attached to each HAND.	Finger