Bibliography on X‐linked mental retardation, the fragile X and related subjects IV (1988)

Spano, LaVelle M.; Opitz, John M.

doi:10.1002/ajmg.1320300103

Cited by 4 publications

(3 citation statements)

References 248 publications

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“…Such transmission has been proposed for some diseases including vitamin D resistant ricketts,"3 orofacio-digital syndrome type J,34 and more recently in familial aplasia of the cerebellar vermis.33 It has been clearly shown for incontinentia pigmenti,36 Alport syndrome,37 and X linked mental retardation syndrome. 38 Moreover, Huttenlocher et al recently reported familial periventricular heterotopia and seizures in four generations of a family with an inheritance pattern suggestive of X linked dominant transmission. 39 Kamuro and Tenokuchi described the same phenomenon in three generations of another family.40 In Rett syndrome4' and Aicardi syndrome,4243 both of which are found almost exclusively in females, X linked dominant inheritance with lethality in hemizygous males has been postulated.…”

Section: Discussionmentioning

confidence: 99%

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Pinard

Motté

Chiron

et al. 1994

Journal of Neurology, Neurosurgery & Psychiatry

101

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Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy.

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Section: Discussionmentioning

confidence: 99%

Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.

Pinard

Motté

Chiron

et al. 1994

Journal of Neurology, Neurosurgery & Psychiatry

101

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“…Most striking is the neurobehavioral phenotype: cognitive dysfunction, visuo‐spatial‐motor deficits, hyperactivity, distractibility, lack of impulse control, perseveration, social deficits, communication abnormalities and autistic behaviors [Jacobs et al, 1980; Spano and Opitz, 1988]. Neuroimaging with MR of fragile X syndrome has shown decreased size of the cerebellar vermis, increased size of the lateral ventricles, greater hippocampal area and increased volume of the caudate nuclei as compared to normal controls [Wisniewski et al, 1991; Reiss et al, 1991, 1994, 1995; Schapiro et al, 1995; Comery et al, 1997; Hjalgrim et al, 1999].…”

Section: Introductionmentioning

confidence: 99%

Aspects of skeletal development in fragile X syndrome fetuses

Hjalgrim¹,

Hansen²,

Brøndum‐Nielsen³

et al. 2000

Am. J. Med. Genet.

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The purpose of the present investigation was to describe the skeletal development in prenatal fragile X syndrome. We studied fetuses (4 males, 2 females), with gestational ages (GA) 12-14 weeks, from 5 unrelated, different, known carrier mothers. Because of trauma to the fetus during abortion, different parts of the 6 fetuses were available for investigation. The vertebral column and the facial skeleton of all the fetuses were examined, the feet and hands of 5 fetuses, and the cranial base of 3 fetuses. The tissue remnants were examined radiographically and histochemically, and the results compared with previously published normal findings. Radiographic findings included normal ossification sequence, except for 1 fetus where there was an abnormal sequence in the first finger; normal morphology of ossification centres; and nasal bones were absent in the 5 fetuses and present in 1 (14 weeks of gestation). The histological study suggests presence of an acid mucopolysaccharide malfunction in the supporting tissue, because the normal cartilage resorption and orthochromatic cartilage reactions do not appear during the initial enchondral ossification. In addition, the apoptosis of ectodermally derived cells (notochord and palatal epithelial layers) appears delayed or abnormal. The sella turcica was malformed in the 2 fetuses investigated for sella turcica morphology.

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“…Some conditions have distinctive phenotypic features, whereas others, such as mental retardation, are non-speci®c. 41 Originally, the Xlinked nature was inferred by the pattern of inheritance. More recently, genes for these disorders have been localized to speci®c regions of the X Sex-based genetic differences H Ostrer chromosome using linkage to speci®c markers.…”

Section: Sex-based Differences In Gene Expressionmentioning

confidence: 99%