Interchange trisomy 9 due to maternal t(6; 9) translocation
Shinsuke NinomiyaKouji NaraharaYuji YokoyamaKazushiro TsujiSatoko ItoWAITCHIRO AKAHORIT. AkahoriYoshiki Seino
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Abstract The occurrence of interchange trisomy due to a 3:1 malsegregation has been documented in only a few cases with trisomy 21. We describe the first case of interchange trisomy 9 due to a maternal t(6; 9) translocation. The patient, a boy neonate who died immediately after birth, had intra‐uterine growth retardation, specific craniofacial features including microcephaly with a high forehead, low‐set ears, upslanting short palpebral fissures, microphthalmia, bulbous nose and micrognathia, cryptorchidism, cystic kidney and various skeletal anomalies. His phenotype was consistent with that of the trisomy 9 syndrome. Cytogenetic analysis showed his karyotype of 47,XY,‐6, + der(6), + der(9)t(6; 9)(q27;q21.1)mat. The present report indicates that a very rare interchange mode of a 3:1 segregation can give rise to a live birth with full trisomy 9 in female carriers with reciprocal translocations involving the proximal long arm of chromosome 9.Keywords:
Trisomy
Microcephaly
Palpebral fissure
We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity. Am. J. Med. Genet. 84:330–333, 1999. © 1999 Wiley-Liss, Inc.
Microcephaly
Cerebellar hypoplasia (non-human)
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'True' microcephaly is associated with extremely varied ocular abnormalities, the most frequent being squint and optic atrophy. Within the heterogeneous group of the microcephalies it seems we can isolate a syndrome consisting of microcephaly, mental retardation, chorioretinal dysplasia and sometimes microphthalmia and embryological remnants such as persistence of the primary vitreous or persistence of its minor forms. Genetic transmission of such anomalies is generally considered to be autosomal recessive. The cases we are reporting on suggest that in some cases dominant transmission can be incriminated.
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Abstract We report on an infant girl with trisomy 13 resulting from an inherited 13–15 Robertsonian translocation identified in a family from a small Spanish village of only 2,100 inhabitants. Both parents and several other relatives had a balanced 13–15 translocation.
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Robertsonian translocation
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Delleman syndrome (oculocerebrocutaneous syndrome, MIM 164180) is characterized by orbital cysts, microphthalmia/anophthalmia, focal skin defects, skin appendages and multiple cerebral malformations. We herein describe a case of an 8-month-old male child with features suggestive of Delleman syndrome along with a rare congenital lid anomaly – an accessory palpebral aperture, not reported so far to the best of our knowledge.
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Microcephaly
Human genetics
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This chapter presents an overview, diagnosis, and treatment of microphthalmia. Congenital microphthalmia describes an abnormally small globe, generally noted in combination with a smaller palpebral fissure and orbit. The degree of microphthalmia varies considerably, extending from only a mild decrease in size of a functional globe, to rare cases of anophthalmos, in which there is a complete absence of ocular tissue. Commonly affected breeds include the collie breeds, notably the Rough Collie. The diagnosis of microphthalmia is made based on clinical findings, supported if necessary by B-mode ultrasonography. There is no treatment for microphthalmia, however in severe cases, secondary conjunctivitis may require either medical management using a topical anti-inflammatory agent or surgical management via the enucleation of residual ocular tissues.
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Anophthalmia
Orbit (dynamics)
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We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity. Am. J. Med. Genet. 84:330–333, 1999. © 1999 Wiley-Liss, Inc.
Microcephaly
Cerebellar hypoplasia (non-human)
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We have observed an apparently new, heritable syndrome consisting of severe microcephaly, microphthalmia, falciform retinal folds, and blindness. Two brothers were affected with these problems. The mother, while she has no ocular malformations, has severe microcephaly and mild mental retardation. The only other offspring of the parents, a boy, is normal. Laboratory evaluation of the affected sibs was uninformative. An environmental cause of this condition has been sought, but none has been identified. Possible modes of inheritance include autosomal dominant inheritance with variable expressivity, X-linked recessive inheritance with partial expression in the mother, or autosomal recessive inheritance that is etiologically unrelated to the mother's microcephaly.
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Variable Expression
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Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with microcephaly, microphthalmia, and bilateral cataracts detected by ultrasonography and confirmed by autopsy. Various routine infection-related tests and invasive genetic testing were negative. Whole genome sequencing of fetus and parents revealed OCLN gene defects may be associated with these multiple congenital abnormalities.
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