We report a case of partial monosomy 7q and partial trisomy 14q in a 4 year old male with microcephaly, prominent eyes, arched eyebrows, malformed ears and overlapping of toes. The unbalanced rearrangement resulted in monosomy of 7q33-->qter and trisomy of 14q32.2-->qter. The clinical phenotype was similar to the other cases of 7q deletion.

BACKGROUND Reproductive loss carries immeasurable human costs as well as being costly to the health care system. The objectives of this study were to determine the frequency and distribution of cytogenetically abnormal miscarriages from couples with recurrent miscarriage and to compare the results with the general population. METHODS A total of 420 specimens, including 29 pre-clinical, 237 em...

background: recurrent abortion is a difficult medical problem happening in about 1-2% of fertile women. most spontaneous miscarriages which happen in the first and second trimesters are caused by chromosomal abnormalities. objective: the present study tries to find the rate of chromosomal abnormalities in couples with recurrent pregnancy loss. materials and methods: in total 165 couples were re...

We performed a cytogenetic study on 140 nonpolymalformed patients with mental retardation of clinically undefined origin, using a high resolution banding technique, to determine how much chromosome abnormalities contribute to the etiology of this condition. A total of 15 patients (10.7%) were found to have autosomal or sex chromosomal abnormalities. Autosomal abnormalities included partial mono...

Objective Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. Methods A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 198...

X-linked neutropenia (XLN) is a rare form of Congenital Neutropenia (CN) caused by inherited gain-of-function mutations of WAS. Here we report 2 cases of the original L270P X-linked neutropenia kindred that evolved to MDS or AML, with acquisition of G-CSFR (CSF3R) mutations and monosomy 7. Thus, leukemic transformation with acquisition of CSF3R mutations and monosomy 7 is not restricted to clas...

ras gene mutations are the most frequent molecular changes found in the preleukemic syndromes of adults and may play a role in initiating these diseases and in their progression to acute leukemia. However, little is known about the incidence or importance of these genetic mutations in childhood myeloproliferative states (MPS). The bone marrow (BM) monosomy 7 syndrome accounts for a large percen...

Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a patient with documented partial monos...

A three generation pedigree is described in which there are two carriers of translocation t(7;18). Two members of the family have trisomy 18p and a stillborn child had monosomy 18p and holoprosencephaly. Another stillborn child probably had holoprosencephaly; the karyotype was not analysed. Based on this observation, the occasional occurrence of holoprosencephaly in monosomy 18p (10% of previou...