Twin brothers with MIDAS syndrome and XX karyotype

Abstract

Twin brothers with microphthalmia, facial dermal hypoplasia, sclerocornea, and supraventricular tachycardia, are reported. Their clinical features are compatible with MIDAS syndrome, a known X-linked and hemizygous male lethal condition. Their karyotypes showed an XX sex chromosome modality with a subtle Xp/Yp translocation proven by the presence of SRY gene. The pregnancy was complicated with fetal supraventricular tachycardia, which was treated with digoxin prenatally. Postnatally, both twins required treatment with adenosine, digoxin, and propanolol to remain in normal sinus rhythm. The possible involvement of the heart, only in the form of cardiomyopathy with arrhythmia is emphasized. Both twins had a selective X-inactivation of the derivative chromosome X with Xp/Yp translocation.

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

“…In the case presented, replication studies indicated the derivative X chromosome was the inactive X in all amniocytes and lymphocytes observed. A similar skewed X-inactivation pattern has been reported in several individuals with MLS syndrome and a derivative X chromosome (Ogata et al, 1998;Anguiano et al, 2003). However, X-inactivation ratios may vary between different tissues within an individual (Gale et al, 1994;Azofeifa et al, 1996).…”

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

“…In the case presented, replication studies indicated the derivative X chromosome was the inactive X in all amniocytes and lymphocytes observed. A similar skewed X-inactivation pattern has been reported in several individuals with MLS syndrome and a derivative X chromosome (Ogata et al, 1998;Anguiano et al, 2003). However, X-inactivation ratios may vary between different tissues within an individual (Gale et al, 1994;Azofeifa et al, 1996).…”

Congenital Linear Streaks on the Face and Neck and Microphthalmia in an Infant Girl

“…Both HCCS and COX7B are involved in mitochondrial respiration and apoptosis (7)(8)(9). Exceptional cases of male infants with MLS phenotype have been reported (10,11). A high degree of intrafamilial phenotypic variability has already been emphasized in this syndrome, even between identical twins (2,4,10) and this tendency is very strikingly illustrated by our observation with complete absence of clinical features in the mother, carrying the same genetic abnormality as her affected daughter.…”

“…Exceptional cases of male infants with MLS phenotype have been reported (10,11). A high degree of intrafamilial phenotypic variability has already been emphasized in this syndrome, even between identical twins (2,4,10) and this tendency is very strikingly illustrated by our observation with complete absence of clinical features in the mother, carrying the same genetic abnormality as her affected daughter. A postzygotic de novo mutation leading to somatic mosaicism might be one factor protecting from an MLS phenotype in females with a terminal Xp deletion or a sequence-level HCCS mutation.…”

Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects

“…Early reports of MLS in males and the phenotypic spectrum observed has been described and studied using standard karyotyping and FISH assays. Anguiano et al ,2003 reported twin brothers with MIDAS syndrome. Microphthalmia, dermal aplasia and sclerocornea.…”

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

“…In the case presented, replication studies indicated the derivative X chromosome was the inactive X in all amniocytes and lymphocytes observed. A similar skewed X-inactivation pattern has been reported in several individuals with MLS syndrome and a derivative X chromosome (Ogata et al, 1998;Anguiano et al, 2003). However, X-inactivation ratios may vary between different tissues within an individual (Gale et al, 1994;Azofeifa et al, 1996).…”

Congenital Linear Streaks on the Face and Neck and Microphthalmia in an Infant Girl

“…Both HCCS and COX7B are involved in mitochondrial respiration and apoptosis (7)(8)(9). Exceptional cases of male infants with MLS phenotype have been reported (10,11). A high degree of intrafamilial phenotypic variability has already been emphasized in this syndrome, even between identical twins (2,4,10) and this tendency is very strikingly illustrated by our observation with complete absence of clinical features in the mother, carrying the same genetic abnormality as her affected daughter.…”

“…Exceptional cases of male infants with MLS phenotype have been reported (10,11). A high degree of intrafamilial phenotypic variability has already been emphasized in this syndrome, even between identical twins (2,4,10) and this tendency is very strikingly illustrated by our observation with complete absence of clinical features in the mother, carrying the same genetic abnormality as her affected daughter. A postzygotic de novo mutation leading to somatic mosaicism might be one factor protecting from an MLS phenotype in females with a terminal Xp deletion or a sequence-level HCCS mutation.…”

Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects

“…Early reports of MLS in males and the phenotypic spectrum observed has been described and studied using standard karyotyping and FISH assays. Anguiano et al ,2003 reported twin brothers with MIDAS syndrome. Microphthalmia, dermal aplasia and sclerocornea.…”

Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization

“…In the case presented, replication studies indicated the derivative X chromosome was the inactive X in all amniocytes and lymphocytes observed. A similar skewed X-inactivation pattern has been reported in several individuals with MLS syndrome and a derivative X chromosome (Ogata et al, 1998;Anguiano et al, 2003). However, X-inactivation ratios may vary between different tissues within an individual (Gale et al, 1994;Azofeifa et al, 1996).…”

Congenital Linear Streaks on the Face and Neck and Microphthalmia in an Infant Girl

“…Both HCCS and COX7B are involved in mitochondrial respiration and apoptosis (7)(8)(9). Exceptional cases of male infants with MLS phenotype have been reported (10,11). A high degree of intrafamilial phenotypic variability has already been emphasized in this syndrome, even between identical twins (2,4,10) and this tendency is very strikingly illustrated by our observation with complete absence of clinical features in the mother, carrying the same genetic abnormality as her affected daughter.…”

“…Exceptional cases of male infants with MLS phenotype have been reported (10,11). A high degree of intrafamilial phenotypic variability has already been emphasized in this syndrome, even between identical twins (2,4,10) and this tendency is very strikingly illustrated by our observation with complete absence of clinical features in the mother, carrying the same genetic abnormality as her affected daughter. A postzygotic de novo mutation leading to somatic mosaicism might be one factor protecting from an MLS phenotype in females with a terminal Xp deletion or a sequence-level HCCS mutation.…”

Translocation t(X;Y) characterized by chromosomal microarray and FISH in a phenotypic male with Microphthalmia and linear skin defects

“…Early reports of MLS in males and the phenotypic spectrum observed has been described and studied using standard karyotyping and FISH assays. Anguiano et al ,2003 reported twin brothers with MIDAS syndrome. Microphthalmia, dermal aplasia and sclerocornea.…”