Bibliography on ceroid‐lipofuscinoses, II

Black, Lawrence; Pullarkat, Raju K.

doi:10.1002/ajmg.1320570204

Am. J. Med. Genet.

1995

DOI: 10.1002/ajmg.1320570204

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Bibliography on ceroid‐lipofuscinoses, II

Lawrence Black

Raju K. Pullarkat

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Cited by 9 publications

References 218 publications

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X chromosome inactivation and X-linked mental retardation

Willard¹

1996

Am. J. Med. Genet.

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The expression of X‐linked genes in females heterozygous for X‐linked defects can be modulated by epigenetic control mechanisms that constitute the X chromosome inactivation pathway. At least four different effects have been found to influence, in females, the phenotypic expression of genes responsible for X‐linked mental retardation (XLMR). First, non‐random X inactivation, due either to stochastic or genetic factors, can result in tissues in which one cell type (for example, that in which the X chromosome carrying a mutant XLMR gene is active) dominates, instead of the normal mosaic cell population expected as a result of random X inactivation. Second, skewed inactivation of the normal X in individuals carrying a deletion of part of the X chromosome has been documented in a number of mentally retarded females. Third, functional disomy of X‐linked genes that are expressed inappropriately due to the absence of X inactivation has been found in mentally retarded females with structurally abnormal X chromosomes that do not contain the X inactivation center. And fourth, dose‐dependent overexpression of X‐linked genes that normally “escape” X inactivation may account for the mental and developmental delay associated with increasing numbers of otherwise inactive X chromosomes in individuals with X chromosome aneuploidy. © 1996 Wiley‐Liss, Inc.

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X chromosome inactivation and X-linked mental retardation

Willard¹

1996

Am. J. Med. Genet.

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Twinning and premature ovarian failure in premutation fragile X carriers

Vianna‐Morgante

1999

Am. J. Med. Genet.

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22q13 deletion syndrome

et al. 2001

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We have recently collected clinical information on 37 individuals with deletion of 22q13 and compared the features of these individuals with 24 previously reported cases. The features most frequently associated with this deletion are global developmental delay, generalized hypotonia, absent or severely delayed speech, and normal to advanced growth. Minor anomalies include dolicocephaly, abnormal ears, ptosis, dysplastic toenails, and relatively large hands. As with many terminal deletions involving pale G-band regions, the deletion can be extremely subtle and can go undetected on routine cytogenetic analysis. In fact, 32% of the individuals in our study had previous chromosome analyses that failed to detect the deletion. Eight of 37 individuals had deletion of 22q13 secondary to an unbalanced chromosome translocation. In the newborn, this deletion should be considered in cases of hypotonia for which other common causes have been excluded. In the older child, this syndrome should be suspected in individuals with normal growth, profound developmental delay, absent or delayed speech, and minor dysmorphic features. We recommend high-resolution chromosome analysis and fluorescence in situ hybridization studies, or molecular analysis to exclude this diagnosis.

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Bibliography on ceroid‐lipofuscinoses, II

Cited by 9 publications

References 218 publications

X chromosome inactivation and X-linked mental retardation

X chromosome inactivation and X-linked mental retardation

Twinning and premature ovarian failure in premutation fragile X carriers

22q13 deletion syndrome

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