6533b82bfe1ef96bd128d88d
RESEARCH PRODUCT
Langer-Giedion syndrome with interstitial 8q-deletion.
Bernhard ZabelWalter A. BaumannJohn M. Opitzsubject
congenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyChromosome DisordersNoseBone and BonesLanger–Giedion syndromeFingersChromosome analysisInternal medicineIntellectual Disabilityotorhinolaryngologic diseasesMedicineHumansAbnormalities MultipleChildGenetics (clinical)Chromosome AberrationsChromosomes Human 6-12 and XSyndrome typebusiness.industryAnatomySyndromemedicine.diseaseSpineChromosome BandingEndocrinologyKaryotypingFemaleChromosome Deletionbusinessdescription
We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1982-03-01 | American journal of medical genetics |