• Publications
  • Influence
New autosomal dominant branchio-oculo-facial syndrome.
We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed
Direct duplication of 9p22-->p24 in a child with duplication 9p syndrome.
A de novo direct duplication of 9p22-->p24 was shown in a child with a duplication 9p phenotype by GTG banding and fluorescence in situ hybridization (FISH) using a chromosome-9 specific painting
Natural history of mosaic trisomy 14 syndrome.
TLDR
Although the surviving patients showed moderate growth and mental retardation, the oldest surviving woman at 29 years demonstrates functional language and appropriate self help skills.
Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism.
TLDR
The occurrence of discordant phenotypic sex in monozygotic twins, involving gonadal dysgenesis with an abnormal dicentric Y, which presumably occurred de novo, followed by anaphase lag probably before the occurrence of twinning is documents.
Penoscrotal transposition and associated anomalies: report of five new cases and review of the literature.
TLDR
PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system.
Chromosome mosaicism in 6,000 amniocenteses.
TLDR
Since an aberrant cell line present in only one primary amniotic fluid cell culture was occasionally identified from another amniocentesis or at birth, multiple cell-single flask mosaicism involving a sex chromosome or a viable autosome abnormality cannot be assumed to be an in vitro event.
Delineation of complex chromosomal rearrangements: evidence for increased complexity
TLDR
This study highlights the importance of the detailed delineation of complex rearrangements, beginning with high-resolution chromosome analysis, and emphasizes the utility of fluorescence in situ hybridization in combination with the data available from the Human Genome Project as a means to delineate such rearrangement.
Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22(p13q12.2)
TLDR
Similar congenital anomalies present in these two patients demonstrate the phenotype of duplication of the distal long arm 22, which has a duplication of q12.2→qter.
Radiological findings in Hallermann-Streiff syndrome: report of five cases and a review of the literature.
TLDR
It is concluded that characteristic radiological findings in the newborn with HSS can aid in the diagnosis, and a skeletal survey in suspected individuals may be valuable in confirming the diagnosis.
Inherited partial duplication of chromosome No. 15
A boy with unusual facial appearance and mental retardation was found to have duplication for the distal half of the long arm of chromosome No. 15 and possibly deficiency for the distal end of the
...
1
2
3
4
5
...