Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops

Finley, Brent E.; Seguin, John; Bennett, Timothy; Ardinger, Robert H.; Burlbaw, J.; Levitch, L; Keifer, Cathy; Pasztor, Linda M.

doi:10.1002/ajmg.1320470216

Cited by 6 publications

(4 citation statements)

References 7 publications

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“…Until now, 33 individuals have been reported with a de novo 7q terminal deletion. In most cases, the deletion involved region 7q32→qter [Bernstein et al, 1980 (patient 2); Bogart et al, 1990 (patients 1, 2, 4, and 5);Finley et al, 1993;Friedrich et al, 1979;de Grouchy and Turleau, 1974 (patient 1); Gurrieri et al, 1993 (patient number 336); Harris et al, 1977 (patients 1, 2, 3, and 4); Kodama et al, 1980;Kosseff et al, 1977;Schrander-Stumpel et al, 1988;Schwartz et al, 1983;Young et al, 1984 (patient 1)]. In most (>50%) of the reported patients a pattern of malformations, previously referred to as the 7q terminal deletion syndrome [Harris et al, 1977 and references therein] included the following clinical characteristics: low birth weight (<3rd centile), pre/postnatal growth and developmental retardation, microcephaly, eye anomalies, flat/broad nasal bridge with bulbous nasal tip, abnormal palm/ sole creases, genital abnormalities (in males), and [type alobar and (semi)lobar] HPE.…”

Section: Discussionmentioning

confidence: 99%

“…One chromosome 7 (right) very clearly shows the 7(q36→qter) deletion. Bernstein et al, 1980 (p2); Bogart et al, 1990 (p1,2,4,5); Finley et al, 1993;Friedrich et al, 1979;de Grouchy and Turleau, 1974 (p1); Gurrieri et al, 1993 (p336); Harris et al, 1977 (p1,2,3,4); Kodama et al, 1980;Kosseff et al, 1977;Schrander-Stumpel et al, 1988;Schwartz et al, 1983;Young et al, 1984 (p1). b Francke, 1978;Gurrieri et al, 1993 (p240,245); Lambert et al, 1981;Masuno et al, 1996;Nistrup Madsen et al, 1983;Reynolds et al, 1984;Taysi et al, 1982;Tiller et al, 1988;Turleau et al, 1979;Warburg et al, 1995 (p3); Young et al, 1984 (p2).…”

Section: Discussionmentioning

confidence: 99%

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De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

Frints¹,

Schoenmakers²,

Smeets³

et al. 1998

Am. J. Med. Genet.

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We report on a de novo 7q36 deletion in a 3-month-old girl with manifestations of the 7q terminal deletion syndrome. Only minimal findings of holoprosencephaly (HPE) were present since only a partial corpus callosum hypoplasia was seen on a magnetic resonance imaging scan of the brain. Extensive fluorescence in situ hybridization analysis showed that the HPE3 critical gene region, inclusive Sonic hedgehog (SHH), En2 (HOX1), and HTR5A, was deleted. A review of 33 other patients with a de novo terminal 7q deletion and the different types of HPE manifestations within these patients will be presented.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

Frints¹,

Schoenmakers²,

Smeets³

et al. 1998

Am. J. Med. Genet.

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“…Trisomies 13 and 16 and tetraploidy were also reported and were often associated with spontaneous abortions or intrauterine fetal demise. Rare chromosomal causes of hydrops reported include duplications [16,17] , translocations [14] , deletions [7,9,[18][19][20] , derivative chromosomes [8,9,21,22] and mosaics [23] . Table 1 summarizes the rare chromosomal abnormalities associated with hydrops reported to date.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of a 4q33–4qter Deletion in a Fetus with Hydrops

Russell

Kontopoulos²,

Quintero³

et al. 2008

Fetal Diagn Ther

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Objective: The 4q– syndrome comprises all microscopically visible deletions of the long arm of chromosome 4. Cases with 4q deletions represent a diverse group that share several phenotypic characteristics. We report the prenatal diagnosis of an isolated terminal 4q33 deletion in a fetus with hydrops. Method: A comprehensive workup, including an amniocentesis, was performed on a 32-week fetus presenting with massive hydrops and polyhydramnios. Results: The karyotype obtained from the amniotic fluid showed an unusual banding pattern on chromosome 4q. Fluorescent in situ hybridization revealed a 4q33-qter deletion. The proband shared several of the phenotypic characteristics of the 4q– syndrome. Multidisciplinary evaluation of the newborn confirmed the genotype and failed to identify another cause for the hydrops. Conclusion: We suggest that the broad spectrum of phenotypes expressed by patients with terminal 4q33 deletions includes hydrops fetalis.

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“…[16] Despite the reported sporadic association with trisomy 18,[57] duplication of 8q,[58,59] terminal deletion of 7q,[60] and mosaicism for ring chromosome 22,[35] the most frequent chromosomal abnormality in fetuses with truncus arteriosus is microdeletion of 22q11, detectable in up to 40% of cases when a cytogenetic examination is performed. [16,34,61–64] In fact, conotruncal heart defects are the most common cardiovascular malformations seen in the presence of 22q11 deletion.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography

Gotsch¹,

Romero²,

Espinoza³

et al. 2009

The Journal of Maternal-Fetal & Neonatal Medicine

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Prenatal diagnosis of truncus arteriosus with two-dimensional (2D) sonography requires expertise in fetal echocardiography. Indeed, truncus arteriosus shares with tetralogy of Fallot and pulmonary atresia with a ventricular septal defect (VSD) the sonographic finding of a single arterial trunk overriding a VSD. The diagnosis of truncus arteriosus can be confirmed when either the main pulmonary artery or its branches are visualized arising from the truncus itself. This requires sequential examination of multiple scanning planes and a process of mental reconstruction of their spatial relationships. The advantage of multiplanar imaging in three-dimensional and four-dimensional ultrasonography is that it allows for the simultaneous visualization of three orthogonal anatomic planes, which can be very important in diagnosing cardiac abnormalities. We report, first, a case of truncus arteriosus diagnosed in utero where the multiplanar display modality provided important insight into the differential diagnosis of this conotruncal anomaly, and then, review the diagnosis of truncus arteriosus on ultrasound.

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Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops

Abstract: Terminal deletion of 7q presents with variable anatomical and developmental findings. This case is the first reported in utero diagnosis based on cytogenetic findings and in utero demonstration of resolving congestive heart failure due to a truncus arteriosus.

Cited by 6 publications

References 7 publications

De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

De novo 7q36 deletion: Breakpoint analysis and types of holoprosencephaly

Prenatal Diagnosis of a 4q33–4qter Deletion in a Fetus with Hydrops

Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography

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