Chromosome 1q deletion
Overview
1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
Symptoms
The list of signs and symptoms mentioned in various sources for 1q deletion includes the 62 symptoms listed below: * Small head * Brachycephaly * Small jaw * Retrognathia * Round face * Flat face * Heavy cheeks * Prominent metopic sutures * Posteriorly rotated ears * Low-set ears * Absent ear lobes * Malformed pinnae * Small eyes * Upward slanting space between eyelids * Widely spaced eyes * Strabismus * Short nose * Bulbous nose * Broad nose * Epicanthal folds * Anteverted nose tip * Long philtrum * Downcurved mouth * Highly arched palate * Cleft palate * Thin upper lips * Short neck * Broad chest * Diaphragmatic hernia * Omphalocele * Small hands * Brachydactyly * Clinodactyly * Syndactyly * Clubfoot * Reduced muscle tone * Mottled skin * Sparse hair * Fine hair * Hypoplasia of corpus callosum * Encephalocele * Seizures * Ventricular septal defects * Auricular septal defects * Cardiomegaly * Ectopic anus * Intestinal malrotation * Esophageal reflux * Hypospadias * Undescended testes * Absent vaginal orifice * Kidney abnormalities * Mental retardation * Growth retardation * Motor retardation * Speech retardation * Deafness * High-pitched infant cry * Shrill infant cry * Characteristic posturing * Apneic spells * Autistic-like behavior
Causes
* Apneic spells * Auricular septal defects * Brachydactyly * Broad chest * Broad nose * Bulbous nose * Cardiomegaly * Cleft palate * Clinodactyly * Clubfoot * Deafness * Epicanthal folds * Fine hair * Flat face * Growth retardation * Highly arched palate * Kidney abnormalities * Long philtrum * Low-set ears * Mental retardation * Motor retardation * Mottled skin * Posteriorly rotated ears * Reduced muscle tone * Round face * Seizures * Short neck * Short nose * Small eyes * Small hands * Small head * Small jaw * Sparse hair * Speech retardation * Strabismus * Syndactyly * Thin upper lips * Upward slanting space between eyelids * Widely spaced eyes
Diagnosis
The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of 1q deletion. This medical information about signs and symptoms for 1q deletion has been gathered from various sources, may not be fully accurate, and may not be the full list of 1q deletion signs or 1q deletion symptoms. Furthermore, signs and symptoms of 1q deletion 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 1q deletion symptoms.