Symptoma

Trisomy 17p

Dup(17p)

In the present patient, the chromosomal anomaly was only detected after the finding of the autosomal reciprocal translocation in the father. [ncbi.nlm.nih.gov]

Treatment is based on the signs and symptoms present in each person. Last updated: 5/9/2018 [rarediseases.info.nih.gov]

  • High Arched Palate

    The clinical features of patient 1934 include developmental delay, triangular face, prominent forehead, low set ears, dental abnormalities, a high arched palate, long, flexible fingers, and joint laxity. [trisomydisorders.wordpress.com]

  • Hypertrichosis

    She has features consistent with the previously described cases with complete trisomy 17p, including pre- and post-natal growth retardation, motor and mental retardation, skeletal anomalies, clinodactyly of the 5th finger, hypertrichosis, as well as facial [ncbi.nlm.nih.gov]

  • Small Head

    Since some of these children have obvious physical handicaps such as a small head and stunted growth, an ultrasound examination which suggests problems would make the amniocentesis results more worrisome. [medhelp.org]

    Affected babies often have small head size, fused second & third toes &sometimes extra fingers and toes. There can be learning and behavior problems from mild to approaching autism in severity. [healthtap.com]

  • Brachydactyly

    Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. [ncbi.nlm.nih.gov]

  • Antimongoloid Slant

    Comparison with the three previously reported patients suggests a clinically distinct "trisomy 17p syndrome", i.e. pre- and postnatal growth retardation, microcephaly, antimongoloid slanting of palpebral fissures, hypertelorism, long philtrum with thin [ncbi.nlm.nih.gov]

    They included intra- and extra-uterine growth retardation, developmental retardation, microcephaly, internal hydrocephalus, a facies with lateral displacement of the inner canthi, antimongoloid slanting of the… CONTINUE READING [semanticscholar.org]

  • Gowers Sign

    Gower's sign was negative. Enlarged nerves were not found. There was no sensory deficit, but detailed testing could not be performed. Electrophysiological studies were done with a MEDELEC Shappire 4 electromyographer. [jnnp.bmj.com]

  • Hyporeflexia

    Neurological examination showed facial dysmorphic characters (as mentioned above), remarkable hyperactivity, pronounced expressive speech delay, generalised hyporeflexia, pes cavus, and incipient tibioperoneal atrophy. Gower's sign was negative. [jnnp.bmj.com]

Treatment - trisomy 17p (T17p), Chromosome 17p trisomy, partial duplication 17p, partial trisomy 17p, chromosome 17p partial duplication Not supplied. [checkorphan.org]

Treatment is based on the signs and symptoms present in each person. Last updated: 5/9/2018 [rarediseases.info.nih.gov]

Prognosis - trisomy 17p (T17p), Chromosome 17p trisomy, partial duplication 17p, partial trisomy 17p, chromosome 17p partial duplication Not supplied. [checkorphan.org]

Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. [ncbi.nlm.nih.gov]

Understanding the role of hyperdiploidy in myeloma prognosis: which trisomies really matter? [published online ahead of print October 29, 2015]. Blood. doi: 10.1182/blood-2015-06-650242. Topics: Multiple Myeloma [cancertherapyadvisor.com]

Etiology A specific factor in the etiology of RCC is not known at the moment, although a number of dietary, environmental factors, hormonal, celllular and genetic factors associated with increased risk. [atlasgeneticsoncology.org]

Several lines of evidence suggest that the initiating transforming event may occur in utero ( 8 – 10 ), but the etiology remains unknown. [pnas.org]

Epidemiology RCC is the most common malignant tumor arising in the kidney and accounts for 2% of all new cancers diagnosed, representing 85% all primary renal neoplasms in adults. [atlasgeneticsoncology.org]

Prevention - trisomy 17p (T17p), Chromosome 17p trisomy, partial duplication 17p, partial trisomy 17p, chromosome 17p partial duplication Not supplied. [checkorphan.org]

ACOG practice bulletin number 130: Prediction and prevention of preterm birth. Obstetrics and Gynecology, 120(4) :964-973. [mombaby.org]

Risk Factors and Preventive Measures Most chromosomal disorders are random events for which there are no preventive measures. [thisability.org]

The recognition of the integral role that BCR signaling plays in the pathogenesis of CLL has led to the development of various targeted therapies that inhibit downstream proteins implicated in the continued cellular proliferation and prevention of apoptosis [jamanetwork.com]