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

Frints, Suzanna G.M.; Schoenmakers, Eric; Smeets, Eric; Petit, P

doi:10.1002/(sici)1096-8628(19980113)75:2<153::aid-ajmg6>3.0.co;2-u

Cited by 34 publications

(23 citation statements)

References 33 publications

(29 reference statements)

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“…Several chromosomal abnormalities, particularly rearrangements involving the 7q36 region, have been reported in infants and fetuses affected with HPE and/or sacral abnormalities [Benzaken et al, 1997;Frints et al, 1997;Morichon-Delvallez et al, 1993;Savage et al, 1997]. However, in the present study karyotypes of both fetuses and parents were normal, although a 7q36 microdeletion has not been formally excluded by an in situ hybridization study.…”

Section: Discussioncontrasting

confidence: 70%

Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

et al. 1999

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We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.

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Section: Discussioncontrasting

confidence: 70%

Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

et al. 1999

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“…Familial cases have been reported with autosomal recessive, autosomal dominant, and possibly X‐linked inheritance [Muenke, 1989]. In some pedigrees with autosomal dominant inheritance defects, one of the known HPE loci—HPE1 at 21q22.3 [Muenke et al, 1995], HPE2 at 2p21 [Schell et al, 1996], HPE3 at 7q36 [Muenke et al, 1994; Roessler et al, 1996; Frints et al, 1997; Ming and Muenke, 1998], and HPE4 at 18p [Overhauser et al, 1995]—was identified.…”

Section: Introductionmentioning

confidence: 99%

Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

2001

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The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). Fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both.

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“…Although HPE was not pointed as a feature of the case here shown, MRI scan of the brain of the patient disclosed hypoplasia of corpus callosum, which may be considered a minimal finding of HPE [20]. In fact, 7q36.3 region encloses the gene SHH - Sonic Hedgehog , which haploinsufficiency was previously associated with HPE [29,30], microcephaly and cerebral midline defects [31].…”

Section: Discussionmentioning

confidence: 75%

“…More than 50 cases are reported and in most of them deletion of 7q32 → qter is involved [20,25]. Microcephaly, short stature, mental and growth retardation, alobar and (semi)lobar HPE, facial dysmorphisms and genital hypoplasia in males are generally observed [9].…”

Section: Discussionmentioning

confidence: 99%

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7q36 deletion and 9p22 duplication: effects of a double imbalance

Pelegrino¹,

Sugayama

Catelani³

et al. 2013

Mol Cytogenet

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The etiology of mental retardation/developmental delay (MRDD) remains a challenge to geneticists and clinicians and can be correlated to environmental and genetic factors. Chromosomal aberrations are common causes of moderate to severe mental retardation and may represent 10% of these occurrences. Here we report the case of a boy with development delay, hypoplasia of corpus callosum, microcephaly, muscular hypotonia, and facial dysmorphisms. A deletion of 7q36.1 → 36.3 and duplication of 9p22.3 → 23 was detected as a result of an unbalanced translocation of paternal origin. Breakpoint delimitation was achieved with array comparative genomic hybridization assay. Additional multiplex ligation dependent probe amplification (MLPA) analyzes confirmed one copy loss of 7q36.3 region and one copy gain of 9p24.3 region. Patient resultant phenotype is consistent with the already described findings for both 7q deletion and 9p duplication syndromes.

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

Cited by 34 publications

References 33 publications

Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

7q36 deletion and 9p22 duplication: effects of a double imbalance

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