Chromosome 1- trisomy 1q32 qter
Overview
A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
Symptoms
* Downslanted fissures * Wide set eyes * Retarded fetal growth * Large fontanelle * Arachnodactyly * Beaked nose * Short head * Pointed chin * Simian crease * Stillbirth * Infant death * Broad nasal root * Depressed nasal bridge * Depressed premaxillary region * Small head * Flat back of head * Recessed jaw * Congenital cardiac anomaly * Excess neck skin * Hernia * Long foot * Long thin toes * Long upper lip groove * Low set ears * Mental retardation * Small jaw * Thick lips * Triangular face * Undescended testes * Ectopic testes * Abnormally placed nipples * Overlapping fingers * Synophris * Wide rib cage
Diagnosis
This medical information about signs and symptoms for Chromosome 1, trisomy 1q32 qter has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 1, trisomy 1q32 qter signs or Chromosome 1, trisomy 1q32 qter symptoms. Furthermore, signs and symptoms of Chromosome 1, trisomy 1q32 qter 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 Chromosome 1, trisomy 1q32 qter symptoms.