Presentation
During pregnancy, the mother was 35 years old and presented a history of hypothyroidism and three idiopathic miscarriages. [journals.lww.com]
It is important to note that exceptions may also occur, where individuals with small amount of chromosomal loss, may have disproportionately severe presentations. [dovemed.com]
This information may be used in genetic counseling, which is an aim of the present study. [spandidos-publications.com]
Treatment is based on the signs and symptoms present in each person. For more information, visit GARD. [rarediseases.org]
Treatment is based on the signs and symptoms present in each person. [rareguru.com]
Entire Body System
- Trisomy 21
Hum Genet 70:87–91 Google Scholar Daniel A (1979) Normal phenotype and partial trisomy for the G positive region of chromosome 21. [link.springer.com]
The occurrence of segmental trisomy 21, with or without association to DS, was first reported by Ilbery et al (8) in 1961. [spandidos-publications.com]
Ears
- Hearing Problem
Additionally, the girl seemed to have more attention problems at school. Audiometric assessment did not show any hearing problems. Stimulant medication was discussed again, but was again rejected. [ncbi.nlm.nih.gov]
Eyes
- Almond-Shaped Eyes
The patient exhibited a shy demeanor, short statue, microcephaly and minor dysmorphic facial and body features, including long philtrum, frontal bossing, almond shaped eyes, auricle abnormalities, nipples widely spaced and clinodactyly of the fifth finger [spandidos-publications.com]
Neurologic
- Hyperactivity
She was cooperative, but to a certain extent inattentive, hyperactive, and impulsive. [ncbi.nlm.nih.gov]
These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention-deficit/hyperactivity disorder (ADHD), and sleep disturbances. [medlineplus.gov]
Treatment
and in some cases, due to treatment also. [dovemed.com]
No information on treatment effects have been given by them. [ncbi.nlm.nih.gov]
Treatment is based on the signs and symptoms present in each person. For more information, visit GARD. [rarediseases.org]
Treatment is based on the signs and symptoms present in each person. [rareguru.com]
Prognosis
What is the Prognosis of Chromosome 21q Deletion Syndrome? (Outcomes/Resolutions) The prognosis of Chromosome 21q Deletion Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any. [dovemed.com]
For most of the affected families, a crucial aspect is the lack of knowledge on aetiopathogenesis and prognosis of both physical and psychological problems and their effective treatment. [ncbi.nlm.nih.gov]
Etiology
(Etiology) Chromosome 21q Deletion Syndrome may be caused in the following manner: A de-novo deletion of genetic material in the long arm (q) of chromosome 21, which is the most common reason for the disorder Rarely, inheritance of the condition from [dovemed.com]
The second candidate gene in the etiology of major mood disorders is S100B, encoding S100 calcium-binding protein B, which has been associated with the etiology of schizophrenia (30), bipolar depression (31,32) and autism (33). [spandidos-publications.com]
Epidemiology
Common emotional and behavioral disorders in preschool children: Presentation, nosology, and epidemiology. J. Child Psychol. Psychiatry. 2006;47:313–337. doi: 10.1111/j.1469-7610.2006.01618.x. [PubMed] [CrossRef] [Google Scholar] 44. [ncbi.nlm.nih.gov]
Common emotional and behavioral disorders in preschool children: Presentation, nosology, and epidemiology. J. Child Psychol. Psychiatry 2006, 47, 313–337. [Google Scholar] [CrossRef] Esser, G.; Ihle, W.; Schmidt, M.H.; Blanz, B. [mdpi.com]
Prevention
How can Chromosome 21q Deletion Syndrome be Prevented? Chromosome 21q Deletion Syndrome may not be preventable since many of these genetic disorders are diagnosed at or following the birth of the child. [dovemed.com]