By Harold Chen MD, FAAP, FACMG (auth.)
Many start defects, even though infrequent separately, are encountered in medical perform and feature now develop into treatable if correctly clinically determined. within the Atlas of Genetic analysis and Counseling, Harold Chen, MD, stocks his virtually forty years of medical genetics perform in a accomplished pictorial atlas of 203 genetic problems, malformations, and malformation syndromes. the writer offers a close define for every affliction, describing its genetics, simple defects, medical beneficial properties, diagnostic exams, and counseling concerns, together with recurrence threat, prenatal analysis, and administration. various colour photos of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the medical positive factors of sufferers at varied a long time, sufferers with various levels of severity, and the optimum diagnostic techniques. The problems mentioned are supplemented by way of case histories and diagnostic affirmation by means of cytogenetics, biochemical, and molecular recommendations, while to be had. additionally on hand in a CD-ROM version (ISBN: 1-58829-974-5).
Authoritative and up to date, the Atlas of Genetic analysis and Counseling may help all physicians to appreciate and realize genetic ailments and malformation syndromes, and for that reason greater evaluation, assistance, and deal with affected sufferers.
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Menezes AV, Enzenauer RW, Buncic JR: Aicardi syndrome: the elusive mild case. Br J Ophthalm 78:494–496, 1994. : Aicardi syndrome in two sisters. J Pediatr 115:282–283, 1989. : Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome. J Pediatr 116:911–917, 1990. Ohtsuka Y, Oka E, Terasaki T: Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 1993 Jul-Aug; 34(4): 627–634. Robinow M, Johnson GJ, Minella PA: Aicardi syndrome: papilloma of the choroid plexus, cleft lip and cleft of the posterior palate.
Facial clefts (anatomically inappropriate) vi. Aplasia cutis 11. Prognosis a. Prenatally diagnosed amniotic adhesion with a grim prognosis b. Most cases of cranial and body wall defects incompatible with extrauterine life c. Infants born with limited limb abnormalities: better prognosis with good results after surgical repair of the constrictions or syndactyly DIAGNOSTIC INVESTIGATIONS 1.
Almost exclusively affects females (heterozygous for a particular mutant X-chromosome gene to manifest) c. Exception: boys with XXY chromosome constitution allowing heterozygous expression of the gene as in the female d. Not known to be a familial condition, except an isolated familial instance involving two sisters 2. Gene map postulated on chromosome Xp22 from an observation in an affected girl with t(X;3)(p22;q12) CLINICAL FEATURES 1. Classic triad a. Pathognomonic chorioretinal lacunae i. Multiple, rounded, unpigmented, and yellowwhite lesions ii.