Do I have Translocation Chromosome Disorders?
More information about symptoms of Translocation Chromosome Disorders and related conditions:
Medical Books Excerpts Excerpts of published medical book chapters related to Translocation Chromosome Disorders are available from published medical books for more detailed information about Translocation Chromosome Disorders.
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the symptoms of Translocation Chromosome Disorders.
Infants with trisomy 13 syndrome may present with microcephaly, varying degrees of holoprosencephaly, sloping forehead with wide sutures and fontanel, and a scalp defect at the vertex. Micro-ophthalmia, cataracts, and other eye abnormalities are seen in most patients with full trisomy 13. Bilateral cleft lip with associated cleft palate is seen in at least 45% of patients. Most are born with a congenital heart defect, especially hypoplastic left heart, ventricular septal defect, patent ductus arteriosus, or dextroposition, which may significantly contribute significantly to the cause of death.
Other possible findings include a flat and broad nose, low-set ears and inner ear abnormalities, polydactyly of the hands and feet, club feet, omphaloceles, neural tube defects, cystic hygroma, genital abnormalities, cystic kidneys, hydronephrosis, and musculoskeletal abnormalities. Affected infants may also experience failure to thrive, seizures, apnea, and feeding difficulties.
Source: Professional Guide to Diseases (Eighth Edition), 2005
Growth retardation begins in utero and remains significant after birth. Initial hypotonia may soon give way to hypertonia. Common findings include microcephaly and dolichocephaly, micrognathia, genital and perineal abnormalities (including imperforate anus), diaphragmatic hernia, and various renal defects. Congenital heart defects, such as ventricular septal defect, tetralogy of Fallot, transposition of the great vessels, and coarctation of the aorta, occur in 80% to 90% of patients and may be the cause of death in many infants.
Other findings may include a short and narrow nose with upturned nares; unilateral or bilateral cleft lip and palate; low-set, slightly pointed ears; a short neck; a conspicuous clenched hand with overlapping fingers (usually seen on ultrasound as well); neural tube defects; omphalocele; cystic hygroma; choroid plexus cysts (also seen in some healthy infants); and oligohydramnios.
Source: Professional Guide to Diseases (Eighth Edition), 2005
These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:
Full list of premium articles on symptoms and diagnosis
The symptom information on this page attempts to provide a list of some possible signs and symptoms of Translocation Chromosome Disorders. This signs and symptoms information for Translocation Chromosome Disorders has been gathered from various sources, may not be fully accurate, and may not be the full list of Translocation Chromosome Disorders signs or Translocation Chromosome Disorders symptoms. Furthermore, signs and symptoms of Translocation Chromosome Disorders may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Translocation Chromosome Disorders symptoms.
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