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Patau’s syndrome Definition
Patau’s syndrome – an AUTOSOMAL TRISOMY disorder that results from a REPLICATION ERROR during cell division in which a GAMETE (sex cell) ends up with two copies of CHROMOSOME 13 instead of the normal single copy (as haploid cells, gametes contain one-half the complement of chromosomes).
At CONCEPTION the ZYGOTE thus ends up with three instead of the normal two copies of chromosome 13, which ultimately produces multiple and lifethreatening congenital anomalies. When Patau’s syndrome occurs as a complete trisomy disorder (all cells carry the extra chromosome), the anomalies are so severe that the disorder often is lethal well before birth. Occasionally Patau’s syndrome occurs as a mosaic disorder (some but not all cells contain the extra chromosome 13), which typically produces milder though nonetheless significant symptoms. Patau’s syndrome occurs in about 1 in 10,000 live births in the United States.
Congenital anomalies characteristics of Patau’s syndrome
|CONGENITAL ANOMALIES CHARACTERISTIC OF PATAU’S SYNDROME|
|atrial septal defect (ASD)||CLEFT PALATE/CLEFT PALATE AND LIP|
|malformed KIDNEYS||malformed or absent eyes|
|microcephaly (small head and BRAIN)||multiple hernia|
|malformed KIDNEYS||malformed or absent NOSE|
|patent ductus arteriosus (PDA)||polycystic kidneys|
|POLYDACTYLY||ventricular septal defect (VSD)|
|Vextrocardia (HEART on right side of chest)|
Children born with Patau’s syndrome have severe and complex physical deformities involving multiple organ systems that require extensive medical care from the time of birth. Most also have severe developmental delays and intellectual impairment arising from malformations affecting the BRAIN and NERVOUS SYSTEM. KARYOTYPE confirms the diagnosis. It is rare for a child who has Patau’s syndrome to survive beyond early childhood; there are no documented survivals to adulthood. Ongoing medical care to accommodate physical anomalies and developmental support to achieve optimal learning potential provide the child who survives the best possible QUALITY OF LIFE.
See also AUTOSOME; CHROMOSOME DISORDERS; CONGENITAL ANOMALY; CONGENITAL HEART DISEASE; DOWN SYNDROME; EDWARDS SYNDROME; ETHICAL ISSUES IN GENETICS AND MOLECULAR MEDICINE; GENETIC SCREENING; INHERITANCE PATTERNS; MOSAICISM; POLYCYSTIC KIDNEY DISEASE.