Literature DB >> 6331786

De novo del(3)(q2800).

M C Alvarez Arratia, H Rivera, M Möller, A Valdivia, A Vigueras, J M Cantu.   

Abstract

A severely malformed girl who died at 3 months of age was found to have de novo del(3)(q2800). The main features were retarded growth and development, microdolichocephaly, bilateral microphthalmia, bilateral cleft lip and palate, cardiac murmur, clenched hands and long flat feet with flexed toes. The phenotypical comparison with the other three 3q partially monosomic patients so far reported did not allow the individualization of a distinct syndrome.

Entities:  

Mesh：

Year:  1984        PMID： 6331786

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  9 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.  De novo ring chromosome 3: a new case with a mild phenotype.

Authors:  M McKinley; A Colley; P Sinclair; D Donnai; T Andrews
Journal:  J Med Genet       Date:  1991-08       Impact factor: 6.318

3.  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

Review 4.  Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.

Authors:  L A Brueton; J C Barber; S M Huson; R M Winter
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

5.  Chromosome 3p23 break with ring formation and translocation of displaced 3p23-->pter segment to 6pter.

Authors:  M Y Yip; H MacKenzie; A Kovacic; A McIntosh
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

6.  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

7.  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

8.  Deletion 3q27----3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions.

Authors:  I Jokiaho; A Salo; K M Niemi; G C Blomstedt; J Pihkala
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

9.  Another Case of De Novo 3q26.33q27.3 Microdeletion and Its Medicolegal Sequel.

Authors:  Ugo Indraccolo; Salvatore Renato Indraccolo; Piergiorgio Fedeli
Journal:  Case Rep Obstet Gynecol       Date:  2018-02-07
  9 in total

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