Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly
Copyright © 2023. Published by Elsevier B.V..
OBJECTIVE: We present molecular cytogenetic characterization of del(X) (p22.33)mat and de novo dup(4) (q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly.
CASE REPORT: A 36-year-old, gravida 3, para 1, woman with short stature (152 cm) underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,Y,del(X)(p22.33)mat, dup(4)(q34.3q35.2). The mother had a karyotype of 46,X,del(X)(p22.33). Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr Xp22.33 × 0, 4q34.3q35.2 × 3. Prenatal ultrasound at 23 weeks of gestation revealed multiple anomalies of flat nasal bridge, ventriculomegaly, atrioventricular septal defect (AVSD) and clinodactyly. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Cytogenetic analysis of the umbilical cord revealed 46,Y,del(X)(p22.33)mat, dup(4)(q34.3q35.2)dn. aCGH analysis on the DNA extracted from the umbilical cord revealed arr [GRCh37 (hg19)] 4q34.3q35.2 (181,149,823-188,191,938) × 3.0, arr Xp22.33 (470,485-2,985,006) × 0 with a 7.042-Mb duplication of 4q34.3-q35.2 and a 2.514-Mb deletion of Xp22.33.
CONCLUSION: A male fetus with del(X)(p22.33) and dup(4)(q34.3q35.2) may present congenital heart defects and short long bones on prenatal ultrasound.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2023 |
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| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:62 |
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| Enthalten in: |
Taiwanese journal of obstetrics & gynecology - 62(2023), 3 vom: 15. Mai, Seite 453-456 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Chen, Chih-Ping [VerfasserIn] |
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| Links: |
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| Themen: |
4q34.3q35.2 duplication |
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| Anmerkungen: |
Date Completed 17.05.2023 Date Revised 17.05.2023 published: Print Citation Status MEDLINE |
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| doi: |
10.1016/j.tjog.2023.03.007 |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM356911098 |
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| 100 | 1 | |a Chen, Chih-Ping |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Molecular cytogenetic characterization of del(X)(p22.33)mat and de novo dup(4)(q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly |
| 264 | 1 | |c 2023 | |
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| 500 | |a Date Completed 17.05.2023 | ||
| 500 | |a Date Revised 17.05.2023 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2023. Published by Elsevier B.V. | ||
| 520 | |a OBJECTIVE: We present molecular cytogenetic characterization of del(X) (p22.33)mat and de novo dup(4) (q34.3q35.2) in a male fetus with multiple anomalies of facial dysmorphism, ventriculomegaly, congenital heart defects, short long bones and clinodactyly | ||
| 520 | |a CASE REPORT: A 36-year-old, gravida 3, para 1, woman with short stature (152 cm) underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,Y,del(X)(p22.33)mat, dup(4)(q34.3q35.2). The mother had a karyotype of 46,X,del(X)(p22.33). Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr Xp22.33 × 0, 4q34.3q35.2 × 3. Prenatal ultrasound at 23 weeks of gestation revealed multiple anomalies of flat nasal bridge, ventriculomegaly, atrioventricular septal defect (AVSD) and clinodactyly. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism. Cytogenetic analysis of the umbilical cord revealed 46,Y,del(X)(p22.33)mat, dup(4)(q34.3q35.2)dn. aCGH analysis on the DNA extracted from the umbilical cord revealed arr [GRCh37 (hg19)] 4q34.3q35.2 (181,149,823-188,191,938) × 3.0, arr Xp22.33 (470,485-2,985,006) × 0 with a 7.042-Mb duplication of 4q34.3-q35.2 and a 2.514-Mb deletion of Xp22.33 | ||
| 520 | |a CONCLUSION: A male fetus with del(X)(p22.33) and dup(4)(q34.3q35.2) may present congenital heart defects and short long bones on prenatal ultrasound | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a 4q34.3q35.2 duplication | |
| 650 | 4 | |a Congenital heart defects | |
| 650 | 4 | |a Short long bones | |
| 650 | 4 | |a Xp22.33 deletion | |
| 700 | 1 | |a Huang, Jian-Pei |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Yi-Yung |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Shin-Wen |e verfasserin |4 aut | |
| 700 | 1 | |a Chern, Schu-Rern |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Peih-Shan |e verfasserin |4 aut | |
| 700 | 1 | |a Wu, Fang-Tzu |e verfasserin |4 aut | |
| 700 | 1 | |a Pan, Yen-Ting |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Wen-Lin |e verfasserin |4 aut | |
| 700 | 1 | |a Pan, Chen-Wen |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Wayseen |e verfasserin |4 aut | |
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