Bartholin-Patau syndrome (Thomas Bartholin)

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A congenital syndrome of multiple abnormalities produced by trisomy of chromosome number 13.

Description

A congenital syndrome of multiple abnormalities produced by trisomy of chromosome number 13. The trisomy is usually due to primary nondisjunction, occasionally to translocation and mosaicism.

Congenital condition resulting from the presence of an extra chromosome of the 13-15 group (D). Present from birth. It is characterized by multiple abnormalities of the head, brain, ears, eyes, cardiovascular system, spleen, reproductive system, pancreas, and other organs. This includes scalp defects, coloboma, hypertelorism, cleft lip, cleft palate, deformed ears, congenital heart disease, microcephaly, sloping forehead, wide sagittal suture and fontanelles, an abnormal thumb, hydronephrosis, hydroureter, microphthalmia, single umbilical artery, umbilical hernia, bicornate uterus and mental retardation. Recurrent respiratory infections with episodes of cyanosis and apnoea. All patients are virtually totally deaf. Birth weight is about 2500 grams; life expectancy is seldom more than 10 years, most infants dying during the first 3 months of life.

Cytogenetic first description in 1960 by Klaus Patau and collaborators in one patient. The clinical picture of a patient described by Thomas Bartholin in 1656 may with certainty be classified as trisomy 13. Later clinical descriptions by Feichtiger in 1943 and Otto Ullrich in 1951.

Bibliography

  • Thomas Bartholinus:
    Historiarum anatomicarum rariorum centuria III et IV. Ujusdem cura accessare observationes anatomicae.
    Petri Pavi Hafniae. Sumtibus Petri Haubold Bibl, 1656, page 95.
  • K. Patau, D. W. Smith, E. Therman, S. L. Inhorn, H. P. Wagner:
    Multiple congenital anomaly caused by an extra autosome.
    The Lancet, London, 1960, I: 790.

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