Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion.
Taiwan J Obstet Gynecol
; 59(3): 432-436, 2020 May.
Article
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| MEDLINE
| ID: mdl-32416893
ABSTRACT
OBJECTIVE:
We present prenatal diagnosis, molecular cytogenetic characterization and genetic counseling of a chromosome 15q24 microdeletion of paternal origin. CASE REPORT A 34-year-old primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Simultaneous array comparative genomic hybridization (aCGH) analysis on amniotic fluid revealed a de novo 2.571-Mb microdeletion of 15q24.1-q24.2. Prenatal ultrasound findings were unremarkable except persistent left superior vena cava and enlarged coronary sinus. The woman requested repeat amniocentesis at 22 weeks of gestation, and aCGH analysis confirmed the result of arr 15q24.1q24.2 (72,963,970-75,535,330) × 1.0 [GRCh37 (hg19)] and a 15q24 microdeletion encompassing the genes of STRA6, CYP11A1, SEMA7A, ARID3B, CYP1A1, CYP1A2, CSK and CPLX3. The parents did not have such a deletion, and polymorphic DNA marker analysis confirmed a paternal origin of the de novo deletion. Metaphase fluorescence in situ hybridization analysis confirmed a 15q24 deletion. The parents elected to terminate the pregnancy, and a malformed fetus was delivered with characteristic facial dysmorphism.CONCLUSION:
Simultaneous aCGH analysis of uncultured amniocytes at amniocentesis may help to detect rare de novo microdeletion disorders.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
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Trastornos de los Cromosomas
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Análisis Citogenético
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Discapacidad Intelectual
Límite:
Adult
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Female
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Humans
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Pregnancy
Idioma:
En
Revista:
Taiwan J Obstet Gynecol
Asunto de la revista:
GINECOLOGIA
/
OBSTETRICIA
Año:
2020
Tipo del documento:
Article