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246548

Non- Disjunction of Chromosome 21 in the Young Mother at Conception

Article

Last updated: 22 Jan 2023

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Abstract

Background: Maternal age influences the type of chromosomal anomaly in Down syndrome. The older age is associated with non-disjunction while the younger age is associated with translocation of chromosome 21.
Aim of the Work: To study the cytogenetics of children with Down syndrome born to the young mother who presented to Pediatrics Genetic Unit at Cairo University Children Hospital during one year (2019), and compare with those born to an older mother.
Materials and Methods: This  descriptive retrospective study analyzed records of 210 children with Down syndrome who presented to Pediatrics Genetic Unit at Cairo University Children Hospital during 2019. 
Results: Among the total 210 studied children with Down syndrome, 21(10%) were born to young mothers aged 21 years or less at conception. Seven (33.34%) were males and 14 (66.6%) were females. Twenty (95.2%) were first born to a young mother, only 1 was a second born. Karyotyping proved that 6 (28.6%) had Robertsonian translocation of trisomy 21, and 15 (75.4%) had non-disjunction. Only 1 (4.76%) of children born to younger mothers had associated cardiac anomalies, while among those born to the older mother 40 (21%) had associated anomalies, of them were cardiac 36 (19.04%), hydrocephalus in one (0.5%), and ambiguous genitalia in 3 (1.58%) (p=0.072). First born trisomy 21 were 109 (51.9%) among the whole studied cohort, with a mean maternal age +/- SD of 30.2 years +/- 7.35 years, their karyotyping was non-disjunction, Robertsonian translocation and mosaic in 100, 5 and 3 respectively. Cardiac anomalies were encountered among 18 (16.5%). 
Conclusion: Children born with trisomy 21 to mothers younger than 21 at conception are mostly due to non-disjunction. First born children with trisomy 21 comprised half the studied cohort of trisomy 21. Further studies to define preventable causes of non-disjunction in the young mother, are needed to reduce the incidence of Down syndrome. 

DOI

10.21608/cupsj.2022.143027.1063

Keywords

Down syndrome, Non- Disjunction, Chromosome 21

Authors

First Name

Hala Ahmed

Last Name

ElGindy

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

elgindyhala@gmail.com

City

-

Orcid

-

First Name

Magd

Last Name

Kotb

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

magdkotb@kasralainy.edu.eg

City

-

Orcid

https://orcid.org/00

First Name

Mohamed

Last Name

Mohamed

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

m.farouk76@gmail.com

City

-

Orcid

-

First Name

Walaa

Last Name

Abuelhamd

MiddleName

Alsharany

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

walaa1@gmail.com

City

-

Orcid

-

First Name

Alsabagh

Last Name

Nahed

MiddleName

-

Affiliation

Department of Pediatrics, Ministry of Health Hospitals, Fawzy Moaz Pediatric Hospital, Alexandria, Egypt

Email

nahedalasabagh@yahoo.com

City

-

Orcid

-

First Name

Nancy

Last Name

Anis

MiddleName

-

Affiliation

Department of Cardiology, School of Medicine, National University in Ireland, Galway, Ireland

Email

nancy.anis@nuigalway.ie

City

-

Orcid

0000-0002-2855-3649

First Name

Aly

Last Name

Elkazaz

MiddleName

-

Affiliation

Department of Pediatrics, Faculty of Medicine, Cairo University, Egypt

Email

alyelkazaz1@gmail.com

City

cairo

Orcid

-

Volume

2

Article Issue

2

Related Issue

35212

Issue Date

2022-07-01

Receive Date

2022-06-05

Publish Date

2022-07-01

Page Start

164

Page End

169

Print ISSN

2805-279X

Online ISSN

2682-3985

Article File

CUPSJ_Volume 2_Issue 2_Pages 164-169.pdf

PDF . 633.5kB

Link

https://cupsj.journals.ekb.eg/article_246548.html

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https://cupsj.journals.ekb.eg/service?article_code=246548

Order

7

Type

Original Research

Type Code

1,229

Publication Type

Journal

Publication Title

Pediatric Sciences Journal

Publication Link

https://cupsj.journals.ekb.eg/

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Details

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Article

Created At

22 Jan 2023