Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, Germany

• Published in: American journal of medical genetics. Part A Vol. 143A; no. 2; pp. 119 - 128
• Main Authors: Göbbel, Luminita, Schultka, Rüdiger, Klunker, Rudyard, Stock, Karsten, Helm, Jürgen, Olsson, Lennart, Opitz, John M., Gerlach, Antje, Tönnies, Holger
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.01.2007; Wiley-Liss
• Subjects: Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; CGH; Developmental Biology; Diseases of the lymphatic vessels; DNA - analysis; DNA - genetics; Female; fetal cystic hygroma colli; Fetal Diseases - genetics; Fetal Diseases - pathology; Fetus - abnormalities; Germany; History, 19th Century; Humans; hydrops; JF Meckel the Younger (1781-1833); Lymphangioma, Cystic - genetics; Lymphangioma, Cystic - pathology; Male; Medical genetics; Medical sciences; Museums; Neck - pathology; Nucleic Acid Hybridization; Skull - pathology; Ullrich-Turner "phenotype"; Ullrich–Turner “phenotype”, CGH; Europe; Germany; Cystic lymphangioma; JF Meckel the Younger (1781-1833); fetal cystic hygroma colli; hydrops; Ullrich-Turner phenotype; Malformation; CGH; Cardiovascular disease; Collection; Fetus; Turner phenotype; Benign neoplasm; Congenital disease; Lymphatic vessel disease
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.31488

The Anatomical collection of the Department of Anatomy and Cell Biology, Medical School of the University of Halle, Germany, comprises more than 8,000 specimens. Around 600 of them show congenital anomalies. The collection of abnormal human and animal fetuses began as the private collection of Johann Friedrich Meckel the Elder (1724–1774), his son Philipp Friedrich Theodor Meckel (1755–1803) and his grandson Johann Friedrich Meckel the Younger (1781–1833). Meckel the Younger founded the systematic science of developmental pathology. Radiographical techniques, computer tomographic (CT) methods, magnetic resonance imaging (MRI), and comparative genomic hybridization (CGH) were used to diagnose abnormal human fetuses in the Meckel‐anatomical collections. Cystic hygroma colli was found in five of the human fetuses originally described by JF Meckel the Younger in 1826 and one of his students in 1819 [Hencke, 1819]. CGH analyses were used to test whether the observed cystic hygroma colli could be caused by chromosomal aneuploidies. CGH‐ratio profiles of all chromosomes were apparently normal. PCR‐based sex determination tests on ancient DNA were used to determine the fetal gonosomal constitution. It is likely that the Meckel specimens are among the oldest fetuses in which Ullrich–Turner “phenotype” has been diagnosed. © 2006 Wiley‐Liss, Inc.