Prometaphase chromosomes in the tricho‐rhino‐phalangeal syndrome type I

Yamamoto, Yoshihiko; Oguro, Noriko; Miyao, Masutomo; Yamaguchi, Masayoshi; Ohsawa, Tadashi

doi:10.1002/ajmg.1320320420

Cited by 4 publications

(2 citation statements)

References 8 publications

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“…Yet in another patient, Yamamoto et al . [12] found no evidence of deletion in a study of the chromosomes at the 850-bands stage in a patient with typical familial TRPS I which correlates with our case.…”

Section: Discussionsupporting

confidence: 90%

Trichorhinophalangeal syndrome type 1: A case report with literature review

Candamourty¹,

Venkatachalam²,

Karthikeyan³

et al. 2012

J Nat Sc Biol Med

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Trichorhinophalangeal syndrome is a very rare genetic disorder, where damage and mutation to the number 8 chromosome affects sufferers in numerous ways. The syndrome has three types, all characterized by abnormally short stature, sparse hair, short deformed fingers with cone-shaped epiphyses visible in radiographs. Type I is the most common. Type II is characterized by the development of multiple bony exostoses and frequently, mental disability. Type III is a more severe form of type I and is associated with short stature. This report presents a 28-year-old man who had the characteristic features of type I with the presence of multiple erupted supernumerary teeth with normal mentation and karyotyping with high resolution G banding displayed normal chromosomal complements.

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Section: Discussionsupporting

confidence: 90%

Trichorhinophalangeal syndrome type 1: A case report with literature review

Candamourty¹,

Venkatachalam²,

Karthikeyan³

et al. 2012

J Nat Sc Biol Med

View full text Add to dashboard Cite

show abstract

“…In all five patients, deletions were visible by cytogenetic analysis. However, only the two patients with the largest deletions were mentally retarded (Yamamoto et al 1989;Hamers et al 1990), whereas the three patients with smaller deletions were mentally normal (Goldblatt and Smart 1986;Fryns and Van den Berghe 1986;Bühler et al 1987).…”

Section: Discussionmentioning

confidence: 98%

A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region

Brandt¹,

Lüdecke²,

Hindkjær³

et al. 1997

Human Genetics

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Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region.

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A catalogue of multiple congenital anomaly syndromes

Winter

Baraitser

1991

Multiple Congenital Anomalies

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Prometaphase chromosomes in the tricho‐rhino‐phalangeal syndrome type I

Cited by 4 publications

References 8 publications

Trichorhinophalangeal syndrome type 1: A case report with literature review

Trichorhinophalangeal syndrome type 1: A case report with literature review

A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region

A catalogue of multiple congenital anomaly syndromes

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