Gerald H. Prescott

Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low‐set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Oral manifestations of the congenital insensitivity-to-pain syndrome

The congenital insensitivity-to-pain syndrome is a sensory syndrome in which pain is impaired. It has been variably classified under a variety of terms, on occasion leading to some confusion. The condition is present at birth. The patient is usually, but not always, normal with respect to intelligence, development, and psychological adjustments. Other sensory perceptions are normal. Traumatic lesions as a result of self-mutilative acts are not uncommon, especially at an early age. The condition may not be apparent clinically until the time of initial tooth eruption. As the primary teeth erupt, the patient acquires the necessary apparatus for self-infliction of wounds to oral structures, skin, and fingernails. A case of congenital indifference to pain is presented, with clinical documentation of tooth-related problems occurring over a 2-year period and of the steps taken to correct or minimize the traumatic effects of chewing.

9p trisomy identified by Giemsa-11

SummaryThe Giemsa-11 technique specifically stains the secondary constriction region of chromosome 9. We report cytologic evidence for 9p trisomy in a 4

Mosaic and hypermodal cells in amniotic fluid cell cultures

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A prenatal diagnosis clinic: An initial report

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Amniocentesis for Antenatal Diagnosis of Genetic Disorders

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Letter: Dangers in nuclear-sexing the fetus.

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Pathogenesis of the prune-belly anomalad*

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