MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome

Journal Article · Mon May 22 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320570123· OSTI ID:99099

Muecke, J ^[1]; Happle, R ^[2]; Theile, H ^[3]

---

1. Saarland Univ. of Homburg (Germany)
2. Univ. of Marburg (Germany)
3. Univ. of Leipzig (Germany)

Although it is true that MIDAS syndrome, Aicardi syndrome and Goltz syndrome show the same transmission, representing X-linked dominant traits with lethality of hemizygote male embryos, and have a number of anomalies such as defects of the eyes or brain in common, it should be noted that MIDAS syndrome and Goltz syndrome have so far never occurred as alternating phenotypes within the same family. In addition, the observation of MIDAS syndrome in a mother and her daughter lends additional support to the notion that this syndrome represents a distinct entity. 3 refs., 4 figs.

• Sponsoring Organization: USDOE
• OSTI ID: 99099
• Journal Information: American Journal of Medical Genetics, Vol. 57, Issue 1; Other Information: PBD: 22 May 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN X CHROMOSOME
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HEREDITARY DISEASES
GENETICS
PATIENTS
PHENOTYPE
CONGENITAL MALFORMATIONS
UROGENITAL SYSTEM DISEASES
CORNEA
GENES
KARYOTYPE
BANDING TECHNIQUES