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How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review
- Source :
- Taiwanese Journal of Obstetrics & Gynecology, Vol 60, Iss 6, Pp 1121-1125 (2021)
- Publication Year :
- 2021
-
Abstract
- Objective Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to facilitate prenatal guidance by pointing the diagnostic features. Case report The fetus was diagnosed prenatally, at 21 weeks of gestation, due to ultrasound markers detected in a routine ultrasound scan. Post-mortem dysmorphological assessment has verified the diagnosis. To the best of our knowledge, this is the second report of prenatal presentation of partial monosomy 21q. Conclusion By giving the detailed phenotype description and presenting a comprehensive literature review on the subject, we delineate its phenotype, which was different from what has been shown in the literature. Specifically, the clinical presentation of aberration within regions 2 and 3 (referring to the term proposed by Lyle et al., in 2009) of 21q22 bands is not characterised by multiple or severe malformations, which matters for prenatal counselling and diagnostics.
- Subjects :
- Adult
Pediatrics
medicine.medical_specialty
Monosomy
Routine ultrasound
Chromosomes, Human, Pair 21
Prenatal diagnosis
Chromosome Disorders
Disease
aCGH
Pregnancy
Prenatal Diagnosis
Rare case
Medicine
Humans
Fetus
Terminal 21q22 deletion
Fetal Growth Retardation
business.industry
Obstetrics and Gynecology
Gynecology and obstetrics
medicine.disease
RG1-991
Female
Presentation (obstetrics)
Chromosome Deletion
business
Subjects
Details
- ISSN :
- 18756263
- Volume :
- 60
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Taiwanese journal of obstetricsgynecology
- Accession number :
- edsair.doi.dedup.....12d621f8e63b531a280ccd76d271fec4