Intermediate Interstitial Deletion of Chromosome 7q Detected by First-Trimester Down’s Syndrome Screening

Cheong, Mei‐Leng; Tsai, Ming‐Song; Cortes, Raul A.; Harrison, Michael R.

doi:10.1159/000161115

Cited by 8 publications

(8 citation statements)

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“…Intermediate interstitial deletion of chromosome 7 spanning from q22 to q31 bands is rare and causes multiple congenital malformations in the affected children (26,27). Only a few rare prenatally detected cases presenting with fetal growth retardation and ultrasonographic findings such as cranial malformations, syndactyly in the lower extremities, renal pelvic dilatation,…”

Section: Discussionmentioning

confidence: 99%

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Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Yakut¹,

Toru²,

Çetin³

et al. 2015

TJPATH

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Objective: About 15% of clinically recognized pregnancies result in spontaneous abortion in the first trimester and the vast majority of these are the result of chromosome abnormalities. Studies of chromosomal constitutions of first trimester spontaneous abortions have revealed that at least 50% of the abortions have an abnormal karyotype. In this study we aimed to report the single centre experience of anomalies detected in spontaneous abortions. Material and Method:We present rare numerical and structural cytogenetic abnormalities detected in spontaneous abortion materials and the histopathological findings of rest material of abortion specimens in our study population.Results: Among 457 cases, 382 were successfully karyotyped while cell culture of 75 cases failed. Cytogenetic abnormalities were detected in 127 of 382 cases (33.24%). Autosomal trisomies were the predominant chromosomal abnormalities with a frequency of 48.8%. Structural chromosomal abnormalities were infrequent in conception materials. The mean age of the mothers was highest in trisomy group, the difference being significantly important (ANOVA p< 0.001). The most frequent chromosomal abnormalities were Turner syndrome, triploidy and trisomy of chromosome 16 followed by trisomy of chromosomes 22 and 21 and tetraploidy. Double trisomies and structural chromosomal abnormalities were rare. Trisomies were more frequent in advanced maternal age. Conclusion:Detection of chromosomal abnormalities in spontaneous abortion materials is very important to clarify the causes of loss of pregnancy. Detection of structural chromosomal abnormalities in the cases and their carrier parents can provide proper genetic counseling to these families. These families can be directed towards pre-implantation genetic diagnosis to prevent further pregnancies with complications.

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Section: Discussionmentioning

confidence: 99%

“…31, No. 2, 2015; Page 111-118 elevated nuchal fold thickness and cardiac malformations have been reported (27)(28)(29).…”

Section: Yakut S Et Al: Cytogenetic Findings In Spontaneous Abortionsmentioning

confidence: 99%

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Yakut¹,

Toru²,

Çetin³

et al. 2015

TJPATH

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“…Our patient displayed increased NT, but other prenatal screening tests were within normal ranges. Although a previous case study associated 7q deletion with abnormal triple screen results in the prenatal period, most 7q deletion cases yield normal prenatal screening results [15]. Increased NT is a commonly observed, nonspecific feature that can be associated with many chromosomal abnormalities, but it could be a useful indicator of 7q deletion, as in our case.…”

Section: Discussionmentioning

confidence: 53%

Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray

Kim

Shin

et al. 2014

Obstet Gynecol Sci

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We report a case of de novo 7q interstitial deletion detected by conventional karyotyping and by microarray of amniotic fluid sampled during the prenatal period. A 32-year-old pregnant woman was evaluated at our hospital following detection of increased nuchal translucency at 12 weeks and 5 days of gestation. Conventional karyotyping revealed 46,XX,del(7)(q21q22) in 20 interphase mitotic cells, and high-resolution microarray revealed 12.8 Mb (90,625,014-103,430,901) deletion in the region 7q21.13q22.1. Both parents had normal karyotypes. After birth, the neonate displayed several anomalies, including palatine cleft, upslanted and wide palpebral fissure, low-set ears, micrognathia, microcephaly, ventriculomegaly, subglottic tracheal stenosis, hearing loss, and hand/foot deformities, including brachydactyly, polydactyly, and cutaneous syndactyly. This case study helps explain the phenotype-genotype relationship in patients with 7q21.13q22.1 deletion.

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“…Interstitial deletions of chromosome 7q are relatively rare and are classified into three main categories according to which cytogenetic bands are involved: proximal (7q11 → q21), intermediate (7q21 → q32), and terminal (7q32 → qter) [Gibson et al, ; Young et al, ; Chitayat et al, ; Fagan et al, ; Tajara et al, ; Morey and Higgins, ; Zackowski et al, ; Yilmaz et al, ; Cheong et al, ; Martínez‐Jacobo et al, ; Kim et al, ; Del Refugio Rivera‐Vega et al, ]. Thirty‐three cases with partial deletions involving the 7q22q31 region have been described previously.…”

Section: Introductionmentioning

confidence: 99%

Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features

Katz¹,

Krantz²,

Noon³

2016

American J of Med Genetics Pt C

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This report describes a male child with a history of poor feeding and swallowing problems, hypotonia, mild bilateral sensorineural hearing loss, cerebral cortical agenesis, cardiac defects, cyanotic episodes triggered by specific movement, dysmorphic features, and developmental delays. Analysis by CytoScan HD array identified a 12.1 Mb interstitial deletion of 7q22.1q31.1 (98,779,628-110,868,171). We present a comprehensive review of the literature surrounding intermediate 7q deletions that overlap with this child's deletion, and an analysis of candidate genes in the deleted region. © 2016 Wiley Periodicals, Inc.

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Intermediate Interstitial Deletion of Chromosome 7q Detected by First-Trimester Down’s Syndrome Screening

Cited by 8 publications

References 50 publications

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Chromosome abnormalities identified in 457 spontaneous abortions and their histopathological findings

Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray

Interstitial deletion of 7q22.1q31.1 in a boy with structural brain abnormality, cardiac defect, developmental delay, and dysmorphic features

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