Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia

Chen, Chih‐Ping; Devriendt, Koenraad; Lee, Chen‐Chi; Chen, Wenlin; Wang, Wayseen; Wang, Tao‐Yeuan

doi:10.1002/(sici)1097-0223(199910)19:10<986::aid-pd672>3.0.co;2-h

Cited by 25 publications

(12 citation statements)

References 23 publications

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“…Unlike the reported facial features of monosomy 7q (7q36→qter) [2,4], the special facial appearance of this boy more closely resembled babies with partial trisomy 7q syndrome [9,13]. These babies present with delays in development, feeding difficulty after birth, mental retardation, serious hypotonus, and unusual faces with frontal bossing, macrocrania, widely-set eyes, low nasal features, and low set ears.…”

Section: Discussionmentioning

confidence: 57%

A rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case report

Yin

Hong

et al. 2012

J Assist Reprod Genet

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Section: Discussionmentioning

confidence: 57%

A rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case report

Yin

Hong

et al. 2012

J Assist Reprod Genet

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“…If viable, the associated neurodevelopmental, craniofacial, dental, and other anomalies vary widely and can include intellectual disability (ID), congenital heart disease, midline cleft palate, choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis, a single maxillary central incisor, agenesis of the premaxilla, and proboscis-like nasal structures [Chen et al, 1999]. The etiology of HPE is heterogeneous and includes environmental and genetic factors [Chen et al, 1999;Kamnasaran et al, 2005]. These include velocardiofacial (VCF) syndrome, ectodermal dysplasia, oculofacio-cardio-dental (OFCD) syndrome and others.…”

Section: Introductionmentioning

confidence: 99%

“…The most severe forms cause prenatal lethality. If viable, the associated neurodevelopmental, craniofacial, dental, and other anomalies vary widely and can include intellectual disability (ID), congenital heart disease, midline cleft palate, choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis, a single maxillary central incisor, agenesis of the premaxilla, and proboscis-like nasal structures [Chen et al, 1999]. Nonetheless, SMMCI has been reported to be a feature of various disorders, some of which do not resemble HPE [Nanni et al, 2001;Kamnasaran et al, 2005;Hall, 2006].…”

Section: Introductionmentioning

confidence: 99%

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome

Poelmans

Kawamoto

Cristofoli

et al. 2015

American J of Med Genetics Pt A

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Solitary Median Maxillary Central Incisor occurs in 1 of 50,000 live births. It is the mildest manifestation of the holoprosencephaly spectrum and is genetically heterogeneous. Here we report six patients with solitary median maxillary central incisor, and a range of other phenotypic anomalies with different degrees of severity, varying from mild signs of holoprosencephaly to associated intellectual disability, and with different genetic background. Using array comparative genomic hybridization, pathogenic copy number variants were found in three of the six patients. Two patients had a deletion at the 18p11 chromosomal region that includes TGIF1 while the other patient had a deletion at 7q36, including the SHH gene. In one patient, a mutation in SIX3 was detected with exome sequencing, while in the two remaining patients all known holoprosencephaly genes were excluded using multiplex ligation-dependent probe amplification and sequencing, and remain unsolved. One of the two latter patients had isolated solitary median maxillary central incisor without other visible dentofacial anomalies, while the other had clinical features not part of the known holoprosencephaly spectrum.

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“…Partial trisomy 3p23 and terminal deletion 7q36 are major genetic mechanisms involved in severe forms of HPE with associated facial dysmorphism, underlying the critical role played by these gene loci in the morphogenesis of the forebrain and mid‐face (Guerrieri et al . 1993; Chen et al . 1999).…”

Section: Introductionmentioning

confidence: 99%

“…Alternatively, it may be associated with chromosomal abnormalities, such as trisomy 13, 18, 21 or triploidy (O'Rahilly 1999). Partial trisomy 3p23 and terminal deletion 7q36 are major genetic mechanisms involved in severe forms of HPE with associated facial dysmorphism, underlying the critical role played by these gene loci in the morphogenesis of the forebrain and mid-face (Guerrieri et al 1993;Chen et al 1999). At present, three human HPE genes have been mapped: Shh at chromosome 7q36; ZIC2 at chromosome 13q32; and SIX3 at chromosome 2p21.…”

Section: Introductionmentioning

confidence: 99%

First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

Tonni¹,

Ventura²,

Centini

et al. 2008

Congenital Anomalies

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A 19-year-old woman was scanned at 10(+6) weeks gestation by 2D-3D ultrasound. The fetus had a crown-rump length of 40.9 mm, with the cephalic pole occupied by a single cystic cavity measuring 10.6 x 7.7 x 6.8 mm and severe hypotelorism associated with mid-facial hypoplasia. 3D ultrasound confirmed the malformations seen on the 2D scan and enabled the visualization of a proboscis and a low-set right ear. Fetal karyotyping was performed by chorionic villus sampling. Due to major fetal malformations of the fetus, the patient opted for termination of pregnancy. First trimester sonographic diagnosis of holoprosencephaly relies on bilateral visualization of choroid plexuses in what has been called the 'butterfly' sign. Differential diagnosis between holoprosencephaly and hydranencephaly may be difficult in the first trimester of pregnancy. However, midline structures such as falx cerebri, interhemispheric fissure and third ventricle are present in hydranencephaly and are absent in alobar holoprosencephaly, and thalami are never fused in hydranencephaly. 3D ultrasound has demonstrated an increased definition of anatomical abnormalities of malformations, compared with 2D ultrasound, and has proven to be crucial in the decision-making process of parents and in later prenatal counseling, especially in this case where necroscopy examination was refused by the parents. Images obtained by 3D ultrasound gave detailed insight into this ventral midline anomaly, depicting much of the disordered prosencephalic development.

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Prenatal diagnosis of partial trisomy 3p(3p23→pter) and monosomy 7q(7q36→qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia

Cited by 25 publications

References 23 publications

A rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case report

A rare chromosomal abnormality inherited from the mother in a boy conceived after intracytoplasmic sperm injection: a case report

Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome

First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

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