Hypothyroidism and Chromosome 21 Deletion

Hypothyroidism and Chromosome 21 Deletion

A 12-year-old mentally retarded girl with a large deletion of the long arm of chromosome 21 and congenital hypothyroidism is reported from the Department of Clinical Genetics and Pediatrics, University Hospital, Uppsala, Sweden.

Bibliographic Details
Main Author:	J Gordon Millichap
Format:	Article
Language:	English
Published:	Pediatric Neurology Briefs Publishers 1996-09-01
Series:	Pediatric Neurology Briefs
Subjects:	congenital hypothyroidism down syndrome chromosome 21
Online Access:	https://www.pediatricneurologybriefs.com/articles/3722

Similar Items

Social and clinical factors associated with the early diagnosis of hypothyroidism in Down syndrome
by: Machado Velásquez, David Josué, et al.
Published: (2021-07-01)

The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21
by: Koji Obara, et al.
Published: (2020-09-01)

A rare non-Robertsonian translocation involving chromosomes 15 and 21
by: Marcelo Razera Baruffi, et al.

Frequency and Risk Factors of Hypothyroidism in Children with Down Syndrome
by: Aijaz Ahmed, et al.
Published: (2019-08-01)

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21
by: Maria Chiara Pelleri, et al.
Published: (2019-08-01)

First trimester ultrasound screening of chromosomal abnormalities
by: Trninić-Pjević Aleksandra, et al.
Published: (2007-01-01)

Attention Deficits and Congenital Hypothyroidism
by: J Gordon Millichap
Published: (1996-06-01)

Hypothyroidism, Motor Clumsiness, and ADHD
by: J Gordon Millichap
Published: (2001-11-01)

A non-mosaic transchromosomic mouse model of Down syndrome carrying the long arm of human chromosome 21
by: Yasuhiro Kazuki, et al.
Published: (2020-06-01)

Febrile Convulsions and Congenital Hypothyroidism
by: J Gordon Millichap
Published: (1998-08-01)

Hipotiroidismo primario en pacientes con síndrome de Down Primary hypothyroidism in patients with Down syndrome
by: Marlen Rivero González, et al.
Published: (2012-06-01)

Congenital hypothyroidism in different cities of the Isfahan province: A descriptive retrospective study
by: Zeinab Hemati, et al.
Published: (2019-01-01)

Alzheimer Disease in Down Syndrome
by: J Gordon Millichap
Published: (1989-08-01)

High thyroid-stimulating hormone level in down's syndrome: A mere resetting of hypothalamopituitary axis in subclinical hypothyroidism?
by: Debmalya Sanyal, et al.
Published: (2020-01-01)

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets
by: Antonella Izzo, et al.
Published: (2018-03-01)

Congenital Hypothyroidism: Etiology and Growth-Development Outcome
by: Setila Dalili, et al.
Published: (2014-10-01)

The transcriptome profile of human trisomy 21 blood cells
by: Francesca Antonaros, et al.
Published: (2021-05-01)

Integrated Quantitative Transcriptome Maps of Human Trisomy 21 Tissues and Cells
by: Maria Chiara Pelleri, et al.
Published: (2018-04-01)

Sotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism
by: Arushi Verma, et al.
Published: (2021-09-01)

A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the gene
by: Won Ik Choi, et al.
Published: (2010-12-01)

Mosaic ring chromosome 21, monosomy 21, and isodicentric ring chromosome 21: Prenatal diagnosis, molecular cytogenetic characterization, and association with 2-Mb deletion of 21q21.1–q21.2 and 5-Mb deletion of 21q22.3
by: Chih-Ping Chen, et al.
Published: (2012-03-01)

Copy Number Changes and Allele Distribution Patterns of Chromosome 21 in B Cell Precursor Acute Lymphoblastic Leukemia
by: M. Reza Abbasi, et al.
Published: (2021-09-01)

The Relationship Between Caesarean and Neonatal Hypothyroidism in Chadegan City
by: Mohsen Naderi Beni, et al.
Published: (2017-10-01)

Prevalence of Permanent Congenital Hypothyroidism in Children in Yazd Central Iran
by: Reza Soleimanizad, et al.
Published: (2013-09-01)

Prevalence of Permanent Congenital Hypothyroidism in Children in Yazd, Central Iran.
by: Mahtab Ordooei, et al.
Published: (2013-09-01)

Congenital Anomalies in Infant with Congenital Hypothyroidism
by: Zahra Razavi, et al.
Published: (2012-09-01)

Bexarotene Impairs Cognition and Produces Hypothyroidism in a Mouse Model of Down Syndrome and Alzheimer’s Disease
by: Verónica Vidal, et al.
Published: (2021-04-01)

The congenital hypothyroidism: the incidence and clinical features of different forms
by: T.V. Sorokman
Published: (2017-04-01)

Congenital hypothyroidism: Screening dilemma
by: Meena P Desai
Published: (2012-01-01)

The Prevalence of Transient and Permanent Congenital Hypothyroidism in Infants of Kurdistan Province, Iran (2006-2014)
by: Zaher khazaei, et al.
Published: (2017-02-01)

Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion
by: Chih-Ping Chen, et al.
Published: (2021-01-01)

Comments to the European Thyroid Association guidelines for the management of subclinical hypothyroidism in pregnancy and in children
by: Valentin Viktorovich Fadeyev
Published: (2014-09-01)

A relationship between subclinical hypothyroidism and hematologic parameters in patients with Down Syndrome
by: Alaaddin Yorulmaz, et al.
Published: (2018-08-01)

Transient congenital hypothyroidism
by: Nisha Bhavani
Published: (2011-01-01)

Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18
by: Niksic S, et al.
Published: (2010-01-01)

Late Diagnosis of Congenital Hypothyroidism in Young Adult
by: Laurentius A Pramono, et al.
Published: (2019-11-01)

Prevalence of permanent congenital hypothyroidism in Isfahan-Iran
by: Mahin Hashemipour, et al.
Published: (2013-01-01)

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21
by: Youssef Hibaoui, et al.
Published: (2014-12-01)

Factors associated with permanent hypothyroidism in infants with congenital hypothyroidism
by: Eun Sil Park, et al.
Published: (2019-11-01)

Congenital hypothyroidism in pediatric practice
by: A. V. Vitebskaya, et al.
Published: (2016-12-01)