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 KIDNEYSmalformed or absent eyes
microcephaly (small head and BRAIN)multiple hernia
malformed KIDNEYSmalformed or absent NOSE
patent ductus arteriosus (PDA)polycystic kidneys
POLYDACTYLYventricular 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 DISORDERSCONGENITAL ANOMALY; CONGENITAL HEART DISEASEDOWN SYNDROMEEDWARDS SYNDROMEETHICAL ISSUES IN GENETICS AND MOLECULAR MEDICINEGENETIC SCREENINGINHERITANCE PATTERNSMOSAICISM; POLYCYSTIC KIDNEY DISEASE.

Patau’s syndrome – Trisomy 13 – definition
Rate this post

About The Author

Leave a Reply

Your email address will not be published. Required fields are marked *