Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review

Puvabanditsin, Surasak; Khan, Imteyaz; Garrow, Eugene; Botti, C; Lambert, George H.; Quan, Michelle

doi:10.1002/ajmg.a.36150

Cited by 6 publications

(10 citation statements)

References 8 publications

(15 reference statements)

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“…Similarly, previous studies have reported the presence of holoprosencephaly, varying from 27% to 70%, in trisomy 13 cases . Other chromosomal abnormalities in our cohort included trisomy 18, triploidy, and trisomy 10, which have also been reported in previous studies in association with holoprosencephaly . As BPD below the 5 th percentile has been described in fetuses with open spina bifida and holoprosencephaly, we recommend that these cases should be referred to a fetal medicine specialist for a detailed ultrasound examination to exclude associated abnormalities, in particular the spine and the brain.…”

Section: Discussionsupporting

confidence: 85%

“…38,39 Other chromosomal abnormalities in our cohort included trisomy 18, triploidy, and trisomy 10, which have also been reported in previous studies in association with holoprosencephaly. 12,[14][15][16]37,[40][41][42] As BPD below the 5 th percentile has been described in fetuses with open spina bifida and holoprosencephaly, we recommend that these cases should be referred to a fetal medicine specialist for a detailed ultrasound examination to exclude associated abnormalities, in particular the spine and the brain. This ultrasound examination should ideally take place in the first trimester, and the operator might consider performing transvaginal ultrasound examination if optimal views could not be achieved using transabdominal ultrasound.…”

Section: Discussionmentioning

confidence: 99%

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Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly

et al. 2013

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Section: Discussionsupporting

confidence: 85%

Section: Discussionmentioning

confidence: 99%

Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly

et al. 2013

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“…The phenotypic features present in the patient are partially compatible with the reported partial trisomy 15 cases, but also contain some differences. The reason for these differences may be related to the partial monosomy of the 17th chromosome, the second chromosome associated with translocation (5). A case reported in 2000 has the same karyotype as our proband and is similar in clinical findings (6).…”

supporting

confidence: 56%

Partial Trisomy 15q and Partial Monosomy 17q in a Boy with Various Dysmorphic Findings

2019

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Trisomies are the most common chromosomal anomalies in humans and constitute about 4% of clinically prescribed pregnancies (1). Trisomy 15, from these, is incompatible with life and constitutes 1.7% of spontaneous abortions (1). Partial trisomies display milder clinical signs than complete trisomies. The partial trisomy of the 15th chromosome has been reported for the first time in 1974, which is life-compatible and is a rare chromosomal anomaly (2). This chromosomal rearrangement often occurs as an unbalanced segregation product of a parent with balanced translocation. The fracture regions in the majority of the cases are 15q22 and distal to it (3, 4). The chromosomal rearrangement that causes partial trisomy 15, the other chromosome that accompanies chromosome 15, varies between cases. In this report, we present a case of partial trisomy 15, which appears as an unbalanced segregation product of a mother with a reciprocal translocation between chromosomes 15 and 17.

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“…Unfortunately, chromosome analysis was not performed on the one early spontaneous abortion and two infants who expired at 2 or 3 days of age; therefore, there is no karyotype information for the underlying chromosomal abnormalities causing these severe conditions. Recently, an infant of partial trisomy 10p12.33 (19.5 Mb) and partial monosomy 13q32.1 (18.3 Mb) from a maternal t(10;13) showed intrauterine growth retardation, microphthalmia, macrocephaly, holoprosencephaly patent ductus arteriosus, renal agenesis imperforate anus, ambiguous genitalia, and vertebral anomaly and expired at 7 days of age [ 7 ]. Assuming that a large deletion will have more severe impact than a duplication in the similar size, the two neonatal deaths and one spontaneous abortion in our case may be caused by much larger partial monosomy 13q and smaller partial trisomy 10p.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Wei

Gao

Yan

et al. 2012

Case Reports in Genetics

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We report prenatal diagnosis and postnatal findings of a fetus with partial trisomy of 13q21.33-qter and partial monosomy of 10p15.3-pter. The mother is a known carrier of a balanced translocation, t(10;13)(p15.3;q21.33), ascertained by history of one miscarriage and two neonatal deaths. The fetal karyotyping on cultured amniocytes showed 46,XX,der(10)t(10;13)(p15.3;q21.33). Oligonucleotide array comparative genomic hybridization (aCGH) defined a 2.339 Mb distal deletion at 10p15.3 (chr10:126,161–2,465,089) and a 46.344 Mb duplication of 13q21.33–q34 (chr13:67,779,708–114,123,540). Ultrasound examination showed polydactyly and polyhydramnios in the fetus. After genetic counseling, the mother decided to continue the pregnancy, and follow-up ultrasound monitoring found no further abnormalities. A girl was delivered at 37+6 weeks of gestation and was transferred to the intensive care unit for intermittent convulsions within 26 hours. She was diagnosed with neonatal hypoxic ischemic encephalopathy and experienced several episodes of apnea in the following month. Her birth weight was 2900 g (10–25th centile) and at five months was 5500 g (5–10th centile). She had dysmorphic features and mild psychomotor retardation. A review of the literature found three previously reported cases with similar compound 10p/13q abnormalities. We discuss a two-step approach to assess fetal viability and phenotype using genomic information from partial trisomy and monosomy.

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Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review

Cited by 6 publications

References 8 publications

Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly

Biparietal diameter at 11 to 13 weeks' gestation in fetuses with holoprosencephaly

Partial Trisomy 15q and Partial Monosomy 17q in a Boy with Various Dysmorphic Findings

Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

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