Hematological Profile in Children With Numerical Chromosomal Disorders

NCT07807540 | Not Yet Recruiting

• 1 other identifier: Hematology-Chromosomal-Disorde
• Study Type: observational
• Target: 158
• Locations: 0 countries
• Sites: N/A

Brief Summary

This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.

Conditions

Down Syndrome; Turner Syndrome; Klinefelter Syndrome; Trisomy 18; Chromosome Disorders

Keywords

Numerical chromosomal disorders; Hematological profile; Down syndrome; Complete blood count; Children

Outcome Measures

Primary Outcomes (1)

• Frequency of hematological abnormalities

  Proportion of children with numerical chromosomal disorders who have one or more hematological abnormalities (anemia, macrocytosis, thrombocytopenia, leukopenia, leukocytosis, or abnormal peripheral blood smear findings), expressed as percentage.

  Baseline

Secondary Outcomes (3)

• Pattern of hematological abnormalities

  Baseline

• Hematological profile according to syndrome type

  Baseline

• Correlation of hematological abnormalities with clinical features

  Baseline

Study Arms (1)

Single cohort: Children with numerical chromosomal disorders

Children aged 28 days to 18 years with confirmed numerical chromosomal disorders who will undergo complete blood count and peripheral blood smear examination to evaluate their hematological profile.

Eligibility Criteria

• Age: 28 Days - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Children aged 28 days to 18 years diagnosed with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.

You may qualify if:

• \- Age from 28 days to 18 years
• Confirmed numerical chromosomal disorder (Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, or Patau syndrome) by karyotype
• Written informed consent from parents or legal guardians

You may not qualify if:

• \- Age below 28 days
• Patients receiving chemotherapy
• Refusal of parents or legal guardians to participate

Sponsors & Collaborators

• Assiut University: lead

Related Publications (4)

• Costa FF, Foly LS, Coutinho MP. DataGenno: building a new tool to bridge molecular and clinical genetics. Appl Clin Genet. 2011 Mar 18;4:45-54. doi: 10.2147/TACG.S17597. Print 2011.

  PMID: 23776366 BACKGROUND

• Bull MJ. Down Syndrome. N Engl J Med. 2020 Jun 11;382(24):2344-2352. doi: 10.1056/NEJMra1706537. No abstract available.

  PMID: 32521135 BACKGROUND

• Nothen MM, Propping P. Identifying genetic factors in common diseases: more helpful in relation to etiology than prediction. Dtsch Arztebl Int. 2013 May;110(19):329-30. doi: 10.3238/arztebl.2013.0329. No abstract available.

  PMID: 23762203 BACKGROUND

• Gershwin LJ, Netherwood KA, Norris MS, Behrens NE, Shao MX. Equine IgE responses to non-viral vaccine components. Vaccine. 2012 Dec 14;30(52):7615-20. doi: 10.1016/j.vaccine.2012.10.029. Epub 2012 Oct 23.

  PMID: 23088888 BACKGROUND

MeSH Terms

Conditions

Down Syndrome; Turner Syndrome; Klinefelter Syndrome; Trisomy 18 Syndrome; Chromosome Disorders

Condition Hierarchy (Ancestors)

Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Dysgenesis; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Sex Chromosome Disorders of Sex Development; Male Urogenital Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Sex Chromosome Disorders; Gonadal Disorders; Endocrine System Diseases; Hypogonadism

Study Officials

• Mohamed M Hamdy, prof

  Pediatrics Department, Assiut University Hospitals

  STUDY CHAIR

Central Study Contacts

Dalia a Sayed, Resident

CONTACT

+20 11 54130609; Dalia.18331747@med.aun.edu.eg

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Resident Physician

Study Record Dates

• First Submitted: September 2, 2026
• First Posted: September 8, 2026
• Study Start: September 2, 2026
• Primary Completion (Estimated): September 26, 2027
• Study Completion (Estimated): July 20, 2028
• Last Updated: September 10, 2026

Record last verified: 2026-09