Literature DB >> 2479748

Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

L A Brueton1, J C Barber, S M Huson, R M Winter.   

Abstract

We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long arm of chromosome 3 are extremely rare, having been reported in five cases, only two of which had terminal 3q deletions.

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Mesh：

Year:  1989        PMID： 2479748      PMCID： PMC1015744          DOI： 10.1136/jmg.26.11.729

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Interstitial deletion of the long arm of chromosome 3.

Authors:  J T Martsolf; M Ray
Journal:  Ann Genet       Date:  1983

2.  Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies.

Authors:  P Franceschini; M Cirillo Silengo; G Davi; R Bianco; M Biagioli
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Trigonocephaly and the Opitz C syndrome.

Authors:  C Sargent; J Burn; M Baraitser; M E Pembrey
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

4.  De novo del(3)(q2800).

Authors:  M C Alvarez Arratia; H Rivera; M Möller; A Valdivia; A Vigueras; J M Cantu
Journal:  Ann Genet       Date:  1984
  4 in total
  4 in total

1.  Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

Authors:  E Holinski-Feder; E Reyniers; S Uhrig; A Golla; J Wauters; P Kroisel; P Bossuyt; I Rost; K Jedele; H Zierler; S Schwab; D Wildenauer; M R Speicher; P J Willems; T Meitinger; R F Kooy
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

2.  Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3.

Authors:  Hideaki Senzaki; Mika Inui; Shin-Ichi Ban; Satoshi Masutani; Mofeed Morsy; Toshiki Kobayashi; Hironori Nagasaka; Nozomu Sasaki; Shunei Kyo; Yuji Yokote
Journal:  Eur J Pediatr       Date:  2003-03-27       Impact factor: 3.183

3.  The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region.

Authors:  Majed J Dasouki; Gerald H Lushington; Karine Hovanes; James Casey; Mereceds Gorre
Journal:  Am J Med Genet A       Date:  2011-05-27       Impact factor: 2.802

4.  Interstitial deletion of band 3q25.

Authors:  A M Slavotinek; S M Huson; M Fitchett
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318
  4 in total

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