Literature DB >> 1552550

Pericentric inversion of chromosome 7 (inv(7) (p22q11.2)) and ring chromosome 8 (r(8) (p23q24.3)) in a girl with minor anomalies.

R S Verma1, R A Conte, J H Pitter, S Luke.   

Abstract

A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q24.3). The concurrence of these two abnormalities is a rare event and has not been reported previously.

Entities:  

Mesh:

Year:  1992        PMID: 1552550      PMCID: PMC1015827          DOI: 10.1136/jmg.29.1.66

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


  4 in total

1.  Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.

Authors:  K Naritomi; N Hyakuna; Y Suzuki; T Orii; K Hirayama
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

2.  Lethal osteogenesis imperfecta associated with 46,XY,inv(7)(p13q22) karyotype.

Authors:  A S Knisely; A Richardson; D Abuelo; S Casey; D B Singer
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

3.  [Ring chromosome 8 (46,XY, 8 r) in a boy with debility (author's transl)].

Authors:  R A Pfeiffer; H G Lenard
Journal:  Klin Padiatr       Date:  1973-05       Impact factor: 1.349

4.  Ring chromosome 8 in a boy with multiple congenital abnormalities and mental retardation.

Authors:  A J Hamers; C van Kempen
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

  4 in total
  3 in total

1.  Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies.

Authors:  M G Butler; E W Roback; G A Allen; V G Dev
Journal:  Am J Med Genet       Date:  1995-07-03

2.  46,XY,r(8)/45,XY,-8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study.

Authors:  Anna A Kashevarova; Tatyana V Nikitina; Larisa I Mikhailik; Elena O Belyaeva; Stanislav A Vasilyev; Mariya E Lopatkina; Dmitry A Fedotov; Elizaveta A Fonova; Aleksei A Zarubin; Aleksei A Sivtsev; Nikolay A Skryabin; Lyudmila P Nazarenko; Igor N Lebedev
Journal:  Genes (Basel)       Date:  2020-12-09       Impact factor: 4.096

3.  An Extremely Rare Case of Birk-Barel Syndrome With Severe Central Apneas.

Authors:  Michael A Ramirez-Arenalde; Wilmarie J Bruckman-Blanco; Abymael Frontanes-Heredia; Sherry L Santiago-Castro; Wilfredo De Jesús-Rojas
Journal:  Cureus       Date:  2021-06-23
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.