We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth retardation, and tetralogy of Fallot. The other is a 10-monthold girl with developmental delay, craniosynostosis, plagiocephaly, and an inv dup 1p34.1p
Partial monosomy of distal 10q: Three new cases and a review
β Scribed by Waggoner, Darrel J.; Chow, Clara K.; Dowton, S. Bruce; Watson, Michael S.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 25 KB
- Volume
- 86
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990903)86:1<1::aid-ajmg1>3.0.co;2-a
No coin nor oath required. For personal study only.
β¦ Synopsis
We report on 3 patients with partial deletions of the long arm of chromosome 10-4 6 , X Y , d e l ( 1 0 ) ( q 2 6 . 2 ) , 4 6 , X X , d e l ( 1 0 ) (q25.3q26.3) or 46,XX,del(10)(q26.1), and 46,XX,del (10)(q26.1). They are compared with other known cases with interstitial or terminal deletions involving chromosome bands 10q25 or q26. Unique manifestations are identified, including scoliosis and a severe behavior disorder with attention deficit and hyperactivity in a 12-year-old boy as well as patchy alopecia in a 6-year-old patient.
π SIMILAR VOLUMES
Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findin
Male patients with Bloch-Sulzberger incontinentia pigmenti (IP type II) are rare and more severely affected than their female counterparts, with a significant occurrence of sex chromosome aneuploidy. This document introduces a new male IP type II patient and reviews 48 males reported with IP. Twenty
Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, p
Cerebello-trigemino-dermal "dysplasia" is a rare neurocutaneous syndrome of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, apparently low-set ears, mental retardation, and short stature. It seems to be a sporadic condition
A genetics evaluation was requested for a 6-week-old infant with multiple congenital malformations including mild craniofacial anomalies, truncal hypotonia, hypospadias, and a ventriculoseptal defect. Blood obtained for chromosome analysis revealed an abnormal chromosome 4. Paternal chromosome analy