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Alzheimer disease is a complex neurodegenerative disorder that is characterized by cognitive decline and distinct neuropathology. The gene for alpha‐2 macroglobulin (A2M) on chromosome 12 has two polymorphisms that, in some cases, are associated with Alzheimer disease. We examined these two...
PHACE syndrome is the term applied to the association of posterior fossa brain abnormalities, hemangiomas, arterial anomalies in the cranial vasculature, coarctation of the aorta/cardiac defects, and eye abnormalities. An overlap with the sternal malformation/vascular dysplasia association has...
High density lipoproteins (HDL) are heterogeneous in their apolipoprotein composition and the role of apolipoprotein A‐II (APOA‐II) in HDL structure and metabolism is poorly understood. Yet, studies of naturally occurring variations of APOA‐II in mice and experiments in transgenic mice...
Children with sex chromosome abnormalities (SCA) are known to be at risk for developmental delays. These risks were identified 2 decades ago by seven international research groups who prospectively followed children ascertained after birth. Subsequently, some of these investigators suggested the...
A patient with hypotonia, blepharophimosis, ptosis, a bulbous nose, a long philtrum, upturned corners of the mouth, and mild developmental delay was found to have a small subtelomeric deletion of the long arm of chromosome 14 (q32.31‐qter). In comparing her phenotype with previously reported...
Cardio‐facio‐cutaneous (CFC) syndrome is characterized by a distinct facial appearance, cardiac defects, ectodermal anomalies and developmental delay. Recently, we reported a 19‐month‐old girl with phenotypic manifestations consistent with the CFC syndrome who had an interstitial deletion...
This study explored age preferences about when to learn at‐risk status and have carrier testing in women who were undergoing testing for fragile X. Forty‐two women (20 carriers and 22 noncarriers) completed a structured interview prior to carrier testing and after learning their result. The...
Anticipation is the term given to the apparent occurrence of an inherited disorder at a progressively earlier age of onset in successive generations. A family of a mother and two children, a 17‐year‐old girl and a 13‐year‐old boy, all experienced migraine with affective psychosis. There...
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