Recurrence of Angelman Syndrome in Siblings: Challenges in Genetic Counseling

被引：0

作者：

Dhanya Yesodharan

M. V. Thampi

Teena Koshy

Sheela Nampoothiri

机构：

[1] Amrita Institute of Medical Sciences and Research Center,Department of Pediatric Genetics

[2] Amrita Institute of Medical Sciences and Research Center,Department of Human Cytogenetics

[3] Sri Ramachandra University,Department of Human Genetics

来源：

The Indian Journal of Pediatrics | 2014年 / 81卷

关键词：

Angelman syndrome; Recurrence; Chromosomal anomaly; Translocation;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

The authors report a rare occurrence of two siblings with Angelman syndrome. Their karyotype revealed monosomy of chromosome 15 and a derivative chromosome 1 leading to Angelman syndrome. Their mother was a balanced translocation carrier involving chromosomes 1p and 15p. In her subsequent pregnancy, prenatal karyotype analysis was offered and the fetus was unaffected.

引用

页码：292 / 295

页数：3

共 50 条

[41] ANGELMAN SYNDROME AND THYROID DYSFUNCTION
Monterrubio-Ledezma, C. E.
Bobadilla-Morales, L.
Pimentel-Gutierrez, N. J.
Corona-Rivera, J. R.
Corona-Rivera, A.
GENETIC COUNSELING, 2012, 23 (03): : 353 - 357
[42] Angelman Syndrome: A Case Report
Ashrafzadeh, Farah
Sadrnabavi, Arianeh
Akhondian, Javad
Beiraghi Toosi, Mehran
Mohammadi, Mohammadhassan
Hassanpour, Kazem
IRANIAN JOURNAL OF CHILD NEUROLOGY, 2016, 10 (02) : 86 - 89
[43] Epilepsy in patients with Angelman syndrome
Agata Fiumara
Annarita Pittalà
Mariadonatella Cocuzza
Giovanni Sorge
Italian Journal of Pediatrics, 36
[44] ANGELMAN SYNDROME - A NEUROPATHOLOGICAL STUDY
KYRIAKIDES, T
HALLAM, LA
HOCKEY, A
SILBERSTEIN, P
KAKULAS, BA
ACTA NEUROPATHOLOGICA, 1992, 83 (06) : 675 - 678
[45] Incontinence in persons with Angelman syndrome
C Wagner
J Niemczyk
M Equit
L Curfs
A von Gontard
European Journal of Pediatrics, 2017, 176 : 225 - 232
[46] Abnormal myelination in Angelman syndrome
Harting, Inga
Seitz, Angelika
Rating, Dietz
Sartor, Klaus
Zschocke, Johannes
Janssen, Bart
Ebinger, Friedrich
Wolf, Nicole I.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2009, 13 (03) : 271 - 276
[47] Outcome measures in Angelman syndrome
Hagenaar, Doesjka A.
Bindels-de Heus, Karen G. C. B.
van Gils, Maud M.
van den Berg, Louise
ten Hoopen, Leontine W.
Affourtit, Philine
Pel, Johan J. M.
Joosten, Koen F. M.
Hillegers, Manon H. J.
Moll, Henriette A.
de Wit, Marie-Claire Y.
Dieleman, Gwen C.
Mous, Sabine E.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS, 2024, 16 (01)
[48] Angelman syndrome in an infant boy
Fitzgerald, Marcie
Turner, Sara M.
JAAPA-JOURNAL OF THE AMERICAN ACADEMY OF PHYSICIAN ASSISTANTS, 2016, 29 (09): : 35 - 37
[49] Epilepsy in Angelman’s Syndrome
Bobylova M.Y.
Mukhin K.Y.
Kuzmich G.V.
Glukhova L.Y.
Pylayeva O.A.
Neuroscience and Behavioral Physiology, 2023, 53 (3) : 302 - 307
[50] THE ANGELMAN SYNDROME: A BRIEF REVIEW
Maltese, Agata
Salerno, Margherita
Tripi, Gabriele
Romano, Palmira
Ricciardi, Annaclaudia
Folco, AnnabellaDi
Di Filippo, Teresa
Parisi, Lucia
ACTA MEDICA MEDITERRANEA, 2017, 33 (04): : 667 - 673

← 1 2 3 4 5 →